Trait: breast carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000305
Description A carcinoma that arises from epithelial cells of the breast
Trait category
Cancer
Synonyms 9 synonyms
  • breast cancer
  • breast cancer, NOS
  • breast carcinoma
  • cancer of breast
  • cancer of the breast
  • cancer, breast
  • carcinoma of breast
  • carcinoma of the breast
  • mammary carcinoma
Mapped terms 8 mapped terms
  • DOID:3459
  • EFO:0000305
  • MONDO:0004989
  • NCIT:C4872
  • OMIM:114480
  • OMIM:615554
  • SCTID:254838004
  • UMLS:C0678222
Child trait(s) 7 child traits

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "breast carcinoma" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000001
(PRS77_BC)
PGP000001 |
Mavaddat N et al. J Natl Cancer Inst (2015)
Breast cancer breast carcinoma 77
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000001/ScoringFiles/PGS000001.txt.gz
PGS000002
(PRS77_ERpos)
PGP000001 |
Mavaddat N et al. J Natl Cancer Inst (2015)
ER-positive breast cancer estrogen-receptor positive breast cancer 77
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000002/ScoringFiles/PGS000002.txt.gz
PGS000003
(PRS77_ERneg)
PGP000001 |
Mavaddat N et al. J Natl Cancer Inst (2015)
ER-negative breast cancer estrogen-receptor negative breast cancer 77
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000003/ScoringFiles/PGS000003.txt.gz
PGS000004
(PRS313_BC)
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Breast cancer breast carcinoma 313
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000004/ScoringFiles/PGS000004.txt.gz
PGS000005
(PRS313_ERpos)
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
ER-positive breast cancer estrogen-receptor positive breast cancer 313
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000005/ScoringFiles/PGS000005.txt.gz
PGS000006
(PRS313_ERneg)
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
ER-negative breast cancer estrogen-receptor negative breast cancer 313
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000006/ScoringFiles/PGS000006.txt.gz
PGS000007
(PRS3820_BC)
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Breast cancer breast carcinoma 3,820
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000007/ScoringFiles/PGS000007.txt.gz
PGS000008
(PRS3820_ERpos)
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
ER-positive breast cancer estrogen-receptor positive breast cancer 3,820
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000008/ScoringFiles/PGS000008.txt.gz
PGS000009
(PRS3820_ERneg)
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
ER-negative breast cancer estrogen-receptor negative breast cancer 3,820
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000009/ScoringFiles/PGS000009.txt.gz
PGS000015
(GPS_BC)
PGP000006 |
Khera AV et al. Nat Genet (2018)
Breast cancer breast carcinoma 5,218
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000015/ScoringFiles/PGS000015.txt.gz - Check Terms/Licenses
PGS000028
(PRS)
PGP000018 |
Shieh Y et al. Breast Cancer Res Treat (2016)
Breast cancer breast carcinoma 83
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000028/ScoringFiles/PGS000028.txt.gz
PGS000029
(PRS_AS)
PGP000018 |
Shieh Y et al. Breast Cancer Res Treat (2016)
Breast cancer breast carcinoma 76
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000029/ScoringFiles/PGS000029.txt.gz
PGS000045
(BCPRS_Overall)
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Breast cancer breast carcinoma 88
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000045/ScoringFiles/PGS000045.txt.gz
PGS000046
(BCPRS_ER+)
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Estrogen receptor [ER]-positive breast cancer estrogen-receptor positive breast cancer 87
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000046/ScoringFiles/PGS000046.txt.gz
PGS000047
(BCPRS_ER-)
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Estrogen receptor [ER]-negative breast cancer estrogen-receptor negative breast cancer 53
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000047/ScoringFiles/PGS000047.txt.gz
PGS000050
(PRS44)
PGP000035 |
Wen W et al. Breast Cancer Res (2016)
Breast cancer breast carcinoma 44
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000050/ScoringFiles/PGS000050.txt.gz
PGS000051
(PRS67)
PGP000036 |
Zhang X et al. PLoS Med (2018)
Breast cancer breast carcinoma 67
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000051/ScoringFiles/PGS000051.txt.gz
PGS000052
(sPRS161)
PGP000037 |
Lakeman IMM et al. J Med Genet (2019)
Breast cancer breast carcinoma 161
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000052/ScoringFiles/PGS000052.txt.gz
PGS000072
(CC_Breast)
PGP000050 |
Graff RE et al. Nat Commun (2021)
Breast cancer breast carcinoma 187
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000072/ScoringFiles/PGS000072.txt.gz
PGS000153
(cGRS_Breast)
PGP000075 |
Shi Z et al. Cancer Med (2019)
Breast cancer breast carcinoma 66
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000153/ScoringFiles/PGS000153.txt.gz
PGS000212
(PRS330_LumA)
PGP000088 |
Zhang H et al. Nat Genet (2020)
Breast cancer intrinsic-like subtype (luminal A-like) luminal A breast carcinoma 330
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000212/ScoringFiles/PGS000212.txt.gz
PGS000213
(PRS330_LumBHER2neg)
PGP000088 |
Zhang H et al. Nat Genet (2020)
Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) HER2 negative breast carcinoma 330
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000213/ScoringFiles/PGS000213.txt.gz
PGS000214
(PRS330_LumB)
PGP000088 |
Zhang H et al. Nat Genet (2020)
Breast cancer intrinsic-like subtype (luminal B-like) luminal B breast carcinoma 330
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000214/ScoringFiles/PGS000214.txt.gz
PGS000215
(PRS330_HER2)
PGP000088 |
Zhang H et al. Nat Genet (2020)
Breast cancer intrinsic-like subtype (HER2-enriched-like) HER2 Positive Breast Carcinoma 330
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000215/ScoringFiles/PGS000215.txt.gz
PGS000216
(PRS330_TN)
PGP000088 |
Zhang H et al. Nat Genet (2020)
Breast cancer intrinsic-like subtype (triple negative) triple-negative breast cancer 330
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000216/ScoringFiles/PGS000216.txt.gz
PGS000317
(PRS180)
PGP000094 |
Shieh Y et al. J Natl Cancer Inst (2020)
Breast cancer breast carcinoma 180
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000317/ScoringFiles/PGS000317.txt.gz
PGS000332
(PRS_BC)
PGP000100 |
Mars N et al. Nat Med (2020)
Breast cancer breast carcinoma 6,390,808
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000332/ScoringFiles/PGS000332.txt.gz
PGS000335
(BC_PRSCS)
PGP000102 |
Mars N et al. Nat Commun (2020)
Breast cancer breast carcinoma 1,079,089
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000335/ScoringFiles/PGS000335.txt.gz
PGS000344
(PRS287_BC)
PGP000112 |
Ho WK et al. Nat Commun (2020)
Breast cancer breast carcinoma 287
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000344/ScoringFiles/PGS000344.txt.gz
PGS000345
(PRS229_BC)
PGP000112 |
Ho WK et al. Nat Commun (2020)
Breast cancer breast carcinoma 229
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000345/ScoringFiles/PGS000345.txt.gz
PGS000346
(PRS287_ERneg)
PGP000112 |
Ho WK et al. Nat Commun (2020)
Estrogen receptor negative breast cancer estrogen-receptor negative breast cancer 287
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000346/ScoringFiles/PGS000346.txt.gz
PGS000347
(PRS287_ERpos)
PGP000112 |
Ho WK et al. Nat Commun (2020)
Estrogen receptor positive breast cancer estrogen-receptor positive breast cancer 287
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000347/ScoringFiles/PGS000347.txt.gz
PGS000472
(PRSWEB_PHECODE174.1_20001-1002_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 22
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000472/ScoringFiles/PGS000472.txt.gz
PGS000473
(PRSWEB_PHECODE174.1_20001-1002_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,111,495
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000473/ScoringFiles/PGS000473.txt.gz
PGS000474
(PRSWEB_PHECODE174.1_20001-1002_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 68
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000474/ScoringFiles/PGS000474.txt.gz
PGS000475
(PRSWEB_PHECODE174.1_20001-1002_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 30,041
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000475/ScoringFiles/PGS000475.txt.gz
PGS000476
(PRSWEB_PHECODE174.1_C3-BREAST-3_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 32
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000476/ScoringFiles/PGS000476.txt.gz
PGS000477
(PRSWEB_PHECODE174.1_C3-BREAST-3_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,111,495
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000477/ScoringFiles/PGS000477.txt.gz
PGS000478
(PRSWEB_PHECODE174.1_C3-BREAST-3_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 120
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000478/ScoringFiles/PGS000478.txt.gz
PGS000479
(PRSWEB_PHECODE174.1_C3-BREAST-3_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 2,267
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000479/ScoringFiles/PGS000479.txt.gz
PGS000480
(PRSWEB_PHECODE174.1_C50_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 20
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000480/ScoringFiles/PGS000480.txt.gz
PGS000481
(PRSWEB_PHECODE174.1_C50_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,111,495
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000481/ScoringFiles/PGS000481.txt.gz
PGS000482
(PRSWEB_PHECODE174.1_C50_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 42
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000482/ScoringFiles/PGS000482.txt.gz
PGS000483
(PRSWEB_PHECODE174.1_C50_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 4,047
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000483/ScoringFiles/PGS000483.txt.gz
PGS000484
(PRSWEB_PHECODE174.1_D05_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 25
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000484/ScoringFiles/PGS000484.txt.gz
PGS000485
(PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 62
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000485/ScoringFiles/PGS000485.txt.gz
PGS000486
(PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 86
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000486/ScoringFiles/PGS000486.txt.gz
PGS000487
(PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 62
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000487/ScoringFiles/PGS000487.txt.gz
PGS000488
(PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 79
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000488/ScoringFiles/PGS000488.txt.gz
PGS000489
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 49
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000489/ScoringFiles/PGS000489.txt.gz
PGS000490
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 49
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000490/ScoringFiles/PGS000490.txt.gz
PGS000491
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,119,140
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000491/ScoringFiles/PGS000491.txt.gz
PGS000492
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PRS-CS_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,120,410
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000492/ScoringFiles/PGS000492.txt.gz
PGS000493
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 217
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000493/ScoringFiles/PGS000493.txt.gz
PGS000494
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 49
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000494/ScoringFiles/PGS000494.txt.gz
PGS000495
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 18,866
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000495/ScoringFiles/PGS000495.txt.gz
PGS000496
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_LASSOSUM_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 41,744
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000496/ScoringFiles/PGS000496.txt.gz
PGS000497
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 257
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000497/ScoringFiles/PGS000497.txt.gz
PGS000498
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 257
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000498/ScoringFiles/PGS000498.txt.gz
PGS000499
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,119,140
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000499/ScoringFiles/PGS000499.txt.gz
PGS000500
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PRS-CS_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,120,410
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000500/ScoringFiles/PGS000500.txt.gz
PGS000501
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,142
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000501/ScoringFiles/PGS000501.txt.gz
PGS000502
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 747
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000502/ScoringFiles/PGS000502.txt.gz
PGS000503
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 61,635
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000503/ScoringFiles/PGS000503.txt.gz
PGS000504
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_LASSOSUM_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 148,560
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000504/ScoringFiles/PGS000504.txt.gz
PGS000505
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 334
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000505/ScoringFiles/PGS000505.txt.gz
PGS000506
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 334
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000506/ScoringFiles/PGS000506.txt.gz
PGS000507
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,119,140
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000507/ScoringFiles/PGS000507.txt.gz
PGS000508
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,120,410
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000508/ScoringFiles/PGS000508.txt.gz
PGS000509
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 3,038
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000509/ScoringFiles/PGS000509.txt.gz
PGS000510
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,682
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000510/ScoringFiles/PGS000510.txt.gz
PGS000511
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 118,388
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000511/ScoringFiles/PGS000511.txt.gz
PGS000512
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 286,144
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000512/ScoringFiles/PGS000512.txt.gz
PGS000513
(PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 41
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000513/ScoringFiles/PGS000513.txt.gz
PGS000514
(PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,119,237
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000514/ScoringFiles/PGS000514.txt.gz
PGS000515
(PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 84
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000515/ScoringFiles/PGS000515.txt.gz
PGS000516
(PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 6,977
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000516/ScoringFiles/PGS000516.txt.gz
PGS000517
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 10
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000517/ScoringFiles/PGS000517.txt.gz
PGS000518
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 10
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000518/ScoringFiles/PGS000518.txt.gz
PGS000519
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,115,376
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000519/ScoringFiles/PGS000519.txt.gz
PGS000520
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PRS-CS_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,116,435
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000520/ScoringFiles/PGS000520.txt.gz
PGS000521
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 9
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000521/ScoringFiles/PGS000521.txt.gz
PGS000522
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 14
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000522/ScoringFiles/PGS000522.txt.gz
PGS000523
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 270
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000523/ScoringFiles/PGS000523.txt.gz
PGS000524
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_LASSOSUM_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 2,708
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000524/ScoringFiles/PGS000524.txt.gz
PGS000525
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 86
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000525/ScoringFiles/PGS000525.txt.gz
PGS000526
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 86
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000526/ScoringFiles/PGS000526.txt.gz
PGS000527
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,115,436
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000527/ScoringFiles/PGS000527.txt.gz
PGS000528
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PRS-CS_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,116,495
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000528/ScoringFiles/PGS000528.txt.gz
PGS000529
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 310
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000529/ScoringFiles/PGS000529.txt.gz
PGS000530
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 174
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000530/ScoringFiles/PGS000530.txt.gz
PGS000531
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 98,026
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000531/ScoringFiles/PGS000531.txt.gz
PGS000532
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_LASSOSUM_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 12,277
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000532/ScoringFiles/PGS000532.txt.gz
PGS000533
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 110
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000533/ScoringFiles/PGS000533.txt.gz
PGS000534
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 110
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000534/ScoringFiles/PGS000534.txt.gz
PGS000535
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,115,484
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000535/ScoringFiles/PGS000535.txt.gz
PGS000536
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 1,116,546
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000536/ScoringFiles/PGS000536.txt.gz
PGS000537
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 363
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000537/ScoringFiles/PGS000537.txt.gz
PGS000538
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 85
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000538/ScoringFiles/PGS000538.txt.gz
PGS000539
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 18,356
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000539/ScoringFiles/PGS000539.txt.gz
PGS000540
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Breast cancer (female) breast carcinoma 7,118
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000540/ScoringFiles/PGS000540.txt.gz
PGS000773
(PRS179_BC)
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
Breast cancer breast carcinoma 179
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000773/ScoringFiles/PGS000773.txt.gz
PGS000774
(PRS179_ERpos)
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
Estrogen receptor positive breast cancer estrogen-receptor positive breast cancer 179
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000774/ScoringFiles/PGS000774.txt.gz
PGS000775
(PRS179_ERneg)
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
Estrogen receptor negative breast cancer estrogen-receptor negative breast cancer 179
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000775/ScoringFiles/PGS000775.txt.gz
PGS000783
(CC_Breast_IV)
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Breast cancer breast carcinoma 162
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000783/ScoringFiles/PGS000783.txt.gz
PGS000873
(SNP143)
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Breast cancer breast carcinoma 143
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000873/ScoringFiles/PGS000873.txt.gz
PGS001336
(GBE_cancer1002)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Breast cancer breast carcinoma 555
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001336/ScoringFiles/PGS001336.txt.gz
PGS001778
(PRS15_BC)
PGP000259 |
Yiangou K et al. Cancers (Basel) (2021)
Breast cancer breast carcinoma 15
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001778/ScoringFiles/PGS001778.txt.gz
PGS001804
(portability-PLR_174.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Breast cancer (female) breast carcinoma 2,984
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001804/ScoringFiles/PGS001804.txt.gz
PGS002015
(portability-ldpred2_174.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Breast cancer (female) breast carcinoma 488,608
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002015/ScoringFiles/PGS002015.txt.gz
PGS002242
(ldpred_breastcancer)
PGP000271 |
Mars N et al. Cell Genom (2022)
Breast cancer breast carcinoma 6,494,889
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002242/ScoringFiles/PGS002242.txt.gz
PGS002294
(PRS111)
PGP000324 |
Yang Y et al. JAMA Netw Open (2022)
Breast cancer breast carcinoma 111
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002294/ScoringFiles/PGS002294.txt.gz
PGS003380
(best_BRCA)
PGP000413 |
Namba S et al. Cancer Res (2022)
Breast cancer breast carcinoma 1,142,637
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003380/ScoringFiles/PGS003380.txt.gz
PGS003396
(PRS-11ASN)
PGP000415 |
Jee YH et al. Int J Epidemiol (2022)
Breast cancer breast carcinoma 11
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003396/ScoringFiles/PGS003396.txt.gz
PGS003397
(PRS-42ASN)
PGP000415 |
Jee YH et al. Int J Epidemiol (2022)
Breast cancer breast carcinoma 42
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003397/ScoringFiles/PGS003397.txt.gz
PGS003398
(PRS-136EUR)
PGP000415 |
Jee YH et al. Int J Epidemiol (2022)
Breast cancer breast carcinoma 136
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003398/ScoringFiles/PGS003398.txt.gz
PGS003399
(PRS-209EUR)
PGP000415 |
Jee YH et al. Int J Epidemiol (2022)
Breast cancer breast carcinoma 209
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003399/ScoringFiles/PGS003399.txt.gz
PGS003738
(PRS136_BC)
PGP000470 |
Xin J et al. EBioMedicine (2023)
Breast cancer breast carcinoma 136
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003738/ScoringFiles/PGS003738.txt.gz
PGS003758
(BrCa_PRS_JPHC_JPGWAS)
PGP000478 |
Ohbe H et al. Breast Cancer Res Treat (2022)
Breast cancer breast carcinoma 46,861
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003758/ScoringFiles/PGS003758.txt.gz
PGS003759
(BrCa_PRS_JPHC_EURGWAS)
PGP000478 |
Ohbe H et al. Breast Cancer Res Treat (2022)
Breast cancer breast carcinoma 17,252
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003759/ScoringFiles/PGS003759.txt.gz
PGS003983
(dbslmm.auto.GCST004988.Breast_cancer)
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Breast cancer breast carcinoma 1,137,459
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003983/ScoringFiles/PGS003983.txt.gz
PGS003999
(lassosum.auto.GCST004988.Breast_cancer)
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Breast cancer breast carcinoma 13,086
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003999/ScoringFiles/PGS003999.txt.gz
PGS004025
(ldpred2.auto.GCST004988.Breast_cancer)
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Breast cancer breast carcinoma 1,041,298
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004025/ScoringFiles/PGS004025.txt.gz
PGS004040
(ldpred2.CV.GCST004988.Breast_cancer)
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Breast cancer breast carcinoma 1,041,298
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004040/ScoringFiles/PGS004040.txt.gz
PGS004053
(megaprs.auto.GCST004988.Breast_cancer)
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Breast cancer breast carcinoma 869,407
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004053/ScoringFiles/PGS004053.txt.gz
PGS004069
(megaprs.CV.GCST004988.Breast_cancer)
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Breast cancer breast carcinoma 869,407
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004069/ScoringFiles/PGS004069.txt.gz
PGS004083
(prscs.auto.GCST004988.Breast_cancer)
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Breast cancer breast carcinoma 1,103,877
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004083/ScoringFiles/PGS004083.txt.gz
PGS004107
(pt_clump.auto.GCST004988.Breast_cancer)
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Breast cancer breast carcinoma 209
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004107/ScoringFiles/PGS004107.txt.gz
PGS004123
(pt_clump_nested.CV.GCST004988.Breast_cancer)
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Breast cancer breast carcinoma 982
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004123/ScoringFiles/PGS004123.txt.gz
PGS004137
(sbayesr.auto.GCST004988.Breast_cancer)
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Breast cancer breast carcinoma 950,524
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004137/ScoringFiles/PGS004137.txt.gz
PGS004153
(UKBB_EnsPGS.GCST004988.Breast_cancer)
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Breast cancer breast carcinoma 1,133,268
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004153/ScoringFiles/PGS004153.txt.gz
PGS004166
(bc_1)
PGP000520 |
Raben TG et al. Sci Rep (2023)
Breast cancer breast carcinoma 3,920
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004166/ScoringFiles/PGS004166.txt.gz
PGS004167
(bc_2)
PGP000520 |
Raben TG et al. Sci Rep (2023)
Breast cancer breast carcinoma 717
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004167/ScoringFiles/PGS004167.txt.gz
PGS004168
(bc_3)
PGP000520 |
Raben TG et al. Sci Rep (2023)
Breast cancer breast carcinoma 4,618
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004168/ScoringFiles/PGS004168.txt.gz
PGS004169
(bc_4)
PGP000520 |
Raben TG et al. Sci Rep (2023)
Breast cancer breast carcinoma 1,361
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004169/ScoringFiles/PGS004169.txt.gz
PGS004170
(bc_5)
PGP000520 |
Raben TG et al. Sci Rep (2023)
Breast cancer breast carcinoma 2,278
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004170/ScoringFiles/PGS004170.txt.gz
PGS004242
(PRS306_breast)
PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
Breast cancer breast carcinoma 306
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004242/ScoringFiles/PGS004242.txt.gz
PGS004441
(disease.breast_cancer.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
Breast cancer breast carcinoma 1,059,939
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004441/ScoringFiles/PGS004441.txt.gz
PGS004511
(meta.breast_cancer.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
Breast cancer breast carcinoma 1,059,939
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004511/ScoringFiles/PGS004511.txt.gz
PGS004579
(BRCA_PRSCS)
PGP000562 |
Youssef Y O et al. Lab Invest (2024)
Breast cancer breast carcinoma 1,088,163
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004579/ScoringFiles/PGS004579.txt.gz
PGS004611
(RORP_PRS)
PGP000590 |
Shieh Y et al. NPJ Precis Oncol (2023)
Breast cancer breast carcinoma 76
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004611/ScoringFiles/PGS004611.txt.gz
PGS004688
(breast_cancer)
PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
Breast cancer breast carcinoma 1,044,110
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004688/ScoringFiles/PGS004688.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM)
Evaluated Score PGS Sample Set ID
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM000011 PGS000001
(PRS77_BC)
PSS000004|
European Ancestry|
29,751 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
|Ext.
Reported Trait: Invasive breast cancer OR: 1.46 [1.42, 1.49] AUROC: 0.603 study, genetic PCs 1-15
PPM000114 PGS000001
(PRS77_BC)
PSS000070|
European Ancestry|
15,252 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
|Ext.
Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.13 [1.1, 1.16] Country, birth year
PPM000117 PGS000001
(PRS77_BC)
PSS000071|
European Ancestry|
8,211 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
|Ext.
Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.22 [1.17, 1.28] Country, birth year
PPM000001 PGS000001
(PRS77_BC)
PSS000001|
European Ancestry|
67,054 individuals
PGP000001 |
Mavaddat N et al. J Natl Cancer Inst (2015)
Reported Trait: All breast cancer OR: 1.55 [1.52, 1.58] C-index: 0.622 [0.619, 0.627]
PPM000962 PGS000001
(PRS77_BC)
PSS000486|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.21 [1.13, 1.29] Country
PPM000945 PGS000001
(PRS77_BC)
PSS000486|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.21 [1.13, 1.29] Country
PPM000944 PGS000001
(PRS77_BC)
PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer HR: 1.21 [1.14, 1.29] Country
PPM000961 PGS000001
(PRS77_BC)
PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer HR: 1.21 [1.14, 1.29] Country
PPM002152 PGS000001
(PRS77_BC)
PSS001054|
European Ancestry|
760 individuals
PGP000198 |
Borde J et al. J Natl Cancer Inst (2020)
|Ext.
Reported Trait: Breast cancer in CHEK2 mutation carriers 40 years of age or below HR: 1.43 [1.04, 1.97] Year of birth, counselling center of origin Only 70 of the original 77 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 70 SNPs used, 7 were proxies R^2>0.8.
PPM002150 PGS000001
(PRS77_BC)
PSS001054|
European Ancestry|
760 individuals
PGP000198 |
Borde J et al. J Natl Cancer Inst (2020)
|Ext.
Reported Trait: Breast cancer in CHEK2 mutation carriers HR: 1.71 [1.36, 2.15] Year of birth, counselling center of origin Only 70 of the original 77 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 70 SNPs used, 7 were proxies R^2>0.8.
PPM002151 PGS000001
(PRS77_BC)
PSS001054|
European Ancestry|
760 individuals
PGP000198 |
Borde J et al. J Natl Cancer Inst (2020)
|Ext.
Reported Trait: Breast cancer in CHEK2 mutation carriers HR: 2.29 [1.56, 3.38] Year of birth, counselling center of origin, PRS*c.1100delC carrier status Only 70 of the original 77 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 70 SNPs used, 7 were proxies R^2>0.8.
PPM002153 PGS000001
(PRS77_BC)
PSS001054|
European Ancestry|
760 individuals
PGP000198 |
Borde J et al. J Natl Cancer Inst (2020)
|Ext.
Reported Trait: Breast cancer in CHEK2 mutation carriers between 41 and 50 years of age HR: 2.32 [1.69, 3.2] Year of birth, counselling center of origin Only 70 of the original 77 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 70 SNPs used, 7 were proxies R^2>0.8.
PPM002154 PGS000001
(PRS77_BC)
PSS001054|
European Ancestry|
760 individuals
PGP000198 |
Borde J et al. J Natl Cancer Inst (2020)
|Ext.
Reported Trait: Breast cancer in CHEK2 mutation carriers between 51 and 60 years of age HR: 1.59 [1.07, 2.35] Year of birth, counselling center of origin Only 70 of the original 77 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 70 SNPs used, 7 were proxies R^2>0.8.
PPM017270 PGS000001
(PRS77_BC)
PSS010184|
European Ancestry|
200,195 individuals
PGP000455 |
Spaeth EL et al. Cancer Prev Res (Phila) (2023)
|Ext.
Reported Trait: breast cancer HR: 1.38 [1.34, 1.42] C-index: 0.628 [0.618, 0.638]
PPM000012 PGS000002
(PRS77_ERpos)
PSS000005|
European Ancestry|
11,428 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
|Ext.
Reported Trait: ER-positive breast cancer OR: 1.52 [1.48, 1.56] AUROC: 0.615 study, genetic PCs 1-15
PPM000002 PGS000002
(PRS77_ERpos)
PSS000003|
European Ancestry|
53,923 individuals
PGP000001 |
Mavaddat N et al. J Natl Cancer Inst (2015)
Reported Trait: ER-positive breast cancer OR: 1.63 [1.6, 1.67]
PPM000115 PGS000002
(PRS77_ERpos)
PSS000070|
European Ancestry|
15,252 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
|Ext.
Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.09 [1.06, 1.12] Country, birth year
PPM000118 PGS000002
(PRS77_ERpos)
PSS000071|
European Ancestry|
8,211 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
|Ext.
Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.22 [1.17, 1.27] Country, birth year
PPM000013 PGS000003
(PRS77_ERneg)
PSS000006|
European Ancestry|
11,428 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
|Ext.
Reported Trait: ER-negative breast cancer OR: 1.35 [1.27, 1.43] AUROC: 0.584 study, genetic PCs 1-15
PPM000116 PGS000003
(PRS77_ERneg)
PSS000070|
European Ancestry|
15,252 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
|Ext.
Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.24 [1.21, 1.28] Country, birth year
PPM000119 PGS000003
(PRS77_ERneg)
PSS000071|
European Ancestry|
8,211 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
|Ext.
Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.13 [1.08, 1.18] Country, birth year
PPM000003 PGS000003
(PRS77_ERneg)
PSS000002|
European Ancestry|
38,722 individuals
PGP000001 |
Mavaddat N et al. J Natl Cancer Inst (2015)
Reported Trait: ER-negative breast cancer OR: 1.45 [1.4, 1.49]
PPM000005 PGS000004
(PRS313_BC)
PSS000007|
European Ancestry|
190,040 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Reported Trait: Incident breast cancer cases HR: 1.59 [1.54, 1.64] study, genetic PCs 1-15 Included only 306 of the 313 SNPs
PPM000004 PGS000004
(PRS313_BC)
PSS000004|
European Ancestry|
29,751 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Reported Trait: Invasive breast cancer OR: 1.61 [1.57, 1.65] AUROC: 0.63 study, genetic PCs 1-15
PPM000940 PGS000004
(PRS313_BC)
PSS000482|
European Ancestry|
84,607 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.39 [1.13, 1.7] Age, country, PCs (1-10)
PPM000938 PGS000004
(PRS313_BC)
PSS000482|
European Ancestry|
84,607 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.3 [1.26, 1.35] Age, country
PPM001345 PGS000004
(PRS313_BC)
PSS000450|
European Ancestry|
122,978 individuals
PGP000102 |
Mars N et al. Nat Commun (2020)
|Ext.
Reported Trait: Breast cancer HR: 1.55 [1.52, 1.58] 10 ancestry PCs, batch, age as time scale 260/313 variants in the PRS are polymorphic in FinnGen
PPM000941 PGS000004
(PRS313_BC)
PSS000483|
European Ancestry|
143,830 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.67 [1.59, 1.76] Age, country, PCs (1-10)
PPM000957 PGS000004
(PRS313_BC)
PSS000482|
European Ancestry|
84,607 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.39 [1.13, 1.7] Age, country, PCs (1-10)
PPM000959 PGS000004
(PRS313_BC)
PSS000481|
Additional Asian Ancestries|
12,473 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.15 [1.02, 1.29] Age, country
PPM000955 PGS000004
(PRS313_BC)
PSS000482|
European Ancestry|
84,607 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.3 [1.26, 1.35] Age, country
PPM001347 PGS000004
(PRS313_BC)
PSS000450|
European Ancestry|
122,978 individuals
PGP000102 |
Mars N et al. Nat Commun (2020)
|Ext.
Reported Trait: Breast cancer OR: 1.61 [1.57, 1.64] Age, 10 ancestry PCs, batch 260/313 variants in the PRS are polymorphic in FinnGen
PPM000958 PGS000004
(PRS313_BC)
PSS000483|
European Ancestry|
143,830 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.67 [1.59, 1.76] Age, country, PCs (1-10)
PPM000954 PGS000004
(PRS313_BC)
PSS000485|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Estrogen-receptor positive metachronous invasive contralateral breast cancer HR: 1.38 [1.23, 1.55] Country
PPM000953 PGS000004
(PRS313_BC)
PSS000486|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.24 [1.16, 1.32] Country
PPM000951 PGS000004
(PRS313_BC)
PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer HR: 1.25 [1.18, 1.33] C-index: 0.563 [0.547, 0.586] Country
PPM000942 PGS000004
(PRS313_BC)
PSS000481|
Additional Asian Ancestries|
12,473 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.15 [1.02, 1.29] Age, country
PPM000960 PGS000004
(PRS313_BC)
PSS000480|
Additional Asian Ancestries|
25,531 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.56 [1.52, 1.6] Age, country
PPM000956 PGS000004
(PRS313_BC)
PSS000483|
European Ancestry|
143,830 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.82 [1.8, 1.84] Age, country
PPM000943 PGS000004
(PRS313_BC)
PSS000480|
Additional Asian Ancestries|
25,531 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.56 [1.52, 1.6] Age, country
PPM000937 PGS000004
(PRS313_BC)
PSS000485|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Estrogen-receptor positive metachronous invasive contralateral breast cancer HR: 1.38 [1.23, 1.55] Country
PPM000936 PGS000004
(PRS313_BC)
PSS000486|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.24 [1.16, 1.32] Country
PPM000935 PGS000004
(PRS313_BC)
PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer C-index: 0.623 [0.591, 0.629] Country, age at first diagnosis, year of first diagnosis, family history for breast cancer in a first degree relative, clinical characteristics of the first breast cancer (nodal status, tumor size, differentiation grade, morphology, estrogen receptor status, human epidermal growth factor receptor 2 status, chemotherapy, endocrine therapy, radiotherapy)
PPM000934 PGS000004
(PRS313_BC)
PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer HR: 1.25 [1.18, 1.33] C-index: 0.563 [0.547, 0.586] Country
PPM000952 PGS000004
(PRS313_BC)
PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer C-index: 0.623 [0.591, 0.629] Country, age at first diagnosis, year of first diagnosis, family history for breast cancer in a first degree relative, clinical characteristics of the first breast cancer (nodal status, tumor size, differentiation grade, morphology, estrogen receptor status, human epidermal growth factor receptor 2 status, chemotherapy, endocrine therapy, radiotherapy)
PPM000939 PGS000004
(PRS313_BC)
PSS000483|
European Ancestry|
143,830 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.82 [1.8, 1.84] Age, country
PPM001012 PGS000004
(PRS313_BC)
PSS000521|
European Ancestry|
18,935 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Breast cancer in BRCA1 carriers HR: 1.2 [1.17, 1.23] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001013 PGS000004
(PRS313_BC)
PSS000525|
European Ancestry|
12,339 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Breast cancer in BRCA2 carriers HR: 1.31 [1.26, 1.36] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001014 PGS000004
(PRS313_BC)
PSS000522|
European Ancestry|
13,401 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER negative breast cancer in BRCA1 carriers HR: 1.09 [1.05, 1.13] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001015 PGS000004
(PRS313_BC)
PSS000526|
European Ancestry|
8,752 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER negative breast cancer in BRCA2 carriers HR: 1.19 [1.1, 1.29] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001016 PGS000004
(PRS313_BC)
PSS000523|
European Ancestry|
13,401 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER positive breast cancer in BRCA1 carriers HR: 1.44 [1.35, 1.54] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001017 PGS000004
(PRS313_BC)
PSS000527|
European Ancestry|
8,752 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER positive breast cancer in BRCA2 carriers HR: 1.36 [1.3, 1.43] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001035 PGS000004
(PRS313_BC)
PSS000531|
European Ancestry|
1,757 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Incidient breast cancer in BRCA2 carriers HR: 1.36 [1.17, 1.57] family history of the appropriate cancer in first- and second-degree relatives
PPM000662 PGS000004
(PRS313_BC)
PSS000363|
European Ancestry|
22,821 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (triple negative) OR: 1.38 [1.31, 1.44] AUROC: 0.5877
PPM000659 PGS000004
(PRS313_BC)
PSS000359|
European Ancestry|
21,533 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (HER2-enriched-like) OR: 1.49 [1.38, 1.6] AUROC: 0.6093
PPM000656 PGS000004
(PRS313_BC)
PSS000362|
European Ancestry|
22,497 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (luminal B-like) OR: 1.68 [1.6, 1.77] AUROC: 0.6432
PPM000653 PGS000004
(PRS313_BC)
PSS000361|
European Ancestry|
22,594 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) OR: 1.62 [1.55, 1.71] AUROC: 0.6336
PPM000650 PGS000004
(PRS313_BC)
PSS000360|
European Ancestry|
28,140 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (luminal A-like) OR: 1.8 [1.75, 1.86] AUROC: 0.6573
PPM001646 PGS000004
(PRS313_BC)
PSS000854|
European Ancestry|
400,812 individuals
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
|Ext.
Reported Trait: Incident breast cancer AUROC: 0.628 [0.62, 0.637] Genotyping array Missing 25 variants (8%) based on availability of variants in the cohort
PPM001647 PGS000004
(PRS313_BC)
PSS000854|
European Ancestry|
400,812 individuals
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
|Ext.
Reported Trait: Incident breast cancer AUROC: 0.633 [0.624, 0.641] family history of cancer (in first-degree relatives), genotyping array Missing 25 variants (8%) based on availability of variants in the cohort
PPM001945 PGS000004
(PRS313_BC)
PSS000974|
European Ancestry|
5,714 individuals
PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer in males OR: 1.55 [1.45, 1.66] Odds Ratio (OR, top 20% vs. bottom 20%): 3.86 [3.07, 4.87]
PPM001946 PGS000004
(PRS313_BC)
PSS000974|
European Ancestry|
5,714 individuals
PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer in females OR: 1.51 [1.42, 1.61] Odds Ratio (OR, top 20% vs. bottom 20%): 3.38 [2.74, 4.18]
PPM001958 PGS000004
(PRS313_BC)
PSS000979|
Multi-ancestry (including European)|
19,264 individuals
PGP000171 |
Fahed AC et al. Nat Commun (2020)
|Ext.
Reported Trait: Breast cancer in carriers of a hereditary breast and ovarian cancer variant OR: 1.44 [1.19, 1.74] Odds Ratio (OR, top 20% vs bottom 20%): 3.04 [1.61, 5.73] Age, PCs (1-4)
PPM001959 PGS000004
(PRS313_BC)
PSS000979|
Multi-ancestry (including European)|
19,264 individuals
PGP000171 |
Fahed AC et al. Nat Commun (2020)
|Ext.
Reported Trait: Breast cancer in non-carriers of a hereditary breast and ovarian cancer variant OR: 1.57 [1.49, 1.65] Age, PCs (1-4)
PPM001960 PGS000004
(PRS313_BC)
PSS000980|
Multi-ancestry (including European)|
26,595 individuals
PGP000171 |
Fahed AC et al. Nat Commun (2020)
|Ext.
Reported Trait: Prevalent breast cancer OR: 1.61 [1.52, 1.7] Age, PCs (1-4)
PPM001999 PGS000004
(PRS313_BC)
PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer OR: 1.27 [1.23, 1.31] Odds Ratio (OR, top 10% vs. middle 20%): 1.54 [1.38, 1.72] Age, study, PCs(1-10) Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies.
PPM002000 PGS000004
(PRS313_BC)
PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer AUROC: 0.571 [0.562, 0.579] Study, PCs(1-10) Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies.
PPM005171 PGS000004
(PRS313_BC)
PSS003598|
African Ancestry|
3,801 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer AUROC: 0.55 [0.51, 0.58] : 0.0003
PPM005118 PGS000004
(PRS313_BC)
PSS003581|
European Ancestry|
413 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male breast cancer in BRCA1 carriers OR: 1.4 [1.06, 1.85] PCs(1-3)
PPM005168 PGS000004
(PRS313_BC)
PSS003599|
European Ancestry|
33,954 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer AUROC: 0.6 [0.59, 0.61] : 0.025
PPM005148 PGS000004
(PRS313_BC)
PSS003595|
European Ancestry|
6,339 individuals
PGP000247 |
Lacaze P et al. Cancers (Basel) (2021)
|Ext.
Reported Trait: Incident invasive estrogen receptor postivie/progesterone receptor positive breast cancer HR: 1.53 [1.22, 1.91] Family history of breast cancer (first-degree blood relatives), treatment (asprin/placebo), age at enrolment, number of children, alcohol use, body mass index at enrolment, use of hormone replacement therapy at enrolment Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3).
PPM005150 PGS000004
(PRS313_BC)
PSS003595|
European Ancestry|
6,339 individuals
PGP000247 |
Lacaze P et al. Cancers (Basel) (2021)
|Ext.
Reported Trait: Diagnosis of prevalent invasive breast cancer before the age of 50 OR: 1.39 [1.08, 1.8] Family history of breast cancer (first-degree blood relatives) Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3).
PPM005151 PGS000004
(PRS313_BC)
PSS003595|
European Ancestry|
6,339 individuals
PGP000247 |
Lacaze P et al. Cancers (Basel) (2021)
|Ext.
Reported Trait: Diagnosis of prevalent invasive breast cancer at the age of 50 or over OR: 1.47 [1.33, 1.63] Family history of breast cancer (first-degree blood relatives) Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3).
PPM005159 PGS000004
(PRS313_BC)
PSS003599|
European Ancestry|
33,954 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer OR: 1.4 [1.35, 1.45] Age, family history, study site, 3 ancestry-specific PCs
PPM005162 PGS000004
(PRS313_BC)
PSS003598|
African Ancestry|
3,801 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer OR: 1.26 [1.1, 1.44] Age, family history, study site, 3 ancestry-specific PCs
PPM005165 PGS000004
(PRS313_BC)
PSS003600|
Hispanic or Latin American Ancestry|
2,196 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer OR: 1.3 [1.08, 1.57] Age, family history, study site, 3 ancestry-specific PCs
PPM005174 PGS000004
(PRS313_BC)
PSS003600|
Hispanic or Latin American Ancestry|
2,196 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer AUROC: 0.55 [0.5, 0.6] : 0.0008
PPM005119 PGS000004
(PRS313_BC)
PSS003581|
European Ancestry|
413 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male breast cancer in BRCA1 carriers OR: 1.39 [1.05, 1.84] PCs(1-3), family history of male breast cancer in first and second degree relatives
PPM005120 PGS000004
(PRS313_BC)
PSS003581|
European Ancestry|
413 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male breast cancer in BRCA1 carriers OR: 1.44 [1.07, 1.95] PCs(1-3), family history of female breast cancer in first and second degree relatives
PPM005121 PGS000004
(PRS313_BC)
PSS003582|
European Ancestry|
1,177 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male breast cancer in BRCA2 carriers OR: 1.32 [1.15, 1.52] PCs(1-3)
PPM005122 PGS000004
(PRS313_BC)
PSS003582|
European Ancestry|
1,177 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male breast cancer in BRCA2 carriers OR: 1.33 [1.15, 1.52] PCs(1-3), family history of male breast cancer in first and second degree relatives
PPM005123 PGS000004
(PRS313_BC)
PSS003582|
European Ancestry|
1,177 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male breast cancer in BRCA2 carriers OR: 1.36 [1.18, 1.57] PCs(1-3), family history of female breast cancer in first and second degree relatives
PPM005147 PGS000004
(PRS313_BC)
PSS003595|
European Ancestry|
6,339 individuals
PGP000247 |
Lacaze P et al. Cancers (Basel) (2021)
|Ext.
Reported Trait: Incident invasive breast cancer HR: 1.43 [1.18, 1.73] C-index: 0.65 [0.59, 0.71] Hazard Ratio (HR, top 20% vs bottom 20%): 2.16 [1.21, 3.86] Family history of breast cancer (first-degree blood relatives), treatment (asprin/placebo), age at enrolment, number of children, alcohol use, body mass index at enrolment, use of hormone replacement therapy at enrolment Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3).
PPM005149 PGS000004
(PRS313_BC)
PSS003595|
European Ancestry|
6,339 individuals
PGP000247 |
Lacaze P et al. Cancers (Basel) (2021)
|Ext.
Reported Trait: Prevalent invasive breast cancer OR: 1.47 [1.34, 1.61] AUROC: 0.62 [0.59, 0.65] Odds Ratio (OR, top 20% vs bottom 20%): 3.16 [2.26, 4.49] Family history of breast cancer (first-degree blood relatives), pathogenic variants in breast cancer-associated genes Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3).
PPM012885 PGS000004
(PRS313_BC)
PSS009592|
Ancestry Not Reported|
5,023 individuals
PGP000292 |
Saad M et al. Lancet Oncol (2022)
|Ext.
Reported Trait: Breast cancer OR: 1.432 [1.333, 1.538] AUROC: 0.6 [0.581, 0.62]
PPM012909 PGS000004
(PRS313_BC)
PSS009609|
European Ancestry|
54,949 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: Incident primary breast cancer AUROC: 0.631 [0.61, 0.651] Calibration (E/O): 0.9 [0.7, 1.0]
PPM012910 PGS000004
(PRS313_BC)
PSS009610|
European Ancestry|
238,663 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: Incident primary breast cancer AUROC: 0.622 [0.614, 0.63] Calibration (E/O): 1.0 [0.7, 1.3]
PPM012912 PGS000004
(PRS313_BC)
PSS009610|
European Ancestry|
238,663 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: Incident primary breast cancer AUROC: 0.64 [0.632, 0.647] iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM012913 PGS000004
(PRS313_BC)
PSS009611|
European Ancestry|
302,425 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: 5-year absolute risk breast cancer (>3%) AUROC: 0.668 iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM012914 PGS000004
(PRS313_BC)
PSS009612|
European Ancestry|
840,867 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: 5-year absolute risk breast cancer (>3%) AUROC: 0.664 iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM012915 PGS000004
(PRS313_BC)
PSS009613|
European Ancestry|
408,679 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: 5-year absolute risk breast cancer (>3%) AUROC: 0.666 iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM012916 PGS000004
(PRS313_BC)
PSS009614|
European Ancestry|
188,453 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: 5-year absolute risk breast cancer (>3%) AUROC: 0.661 iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM012917 PGS000004
(PRS313_BC)
PSS009615|
European Ancestry|
1,401,091 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: 5-year absolute risk breast cancer (>3%) AUROC: 0.664 iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM012918 PGS000004
(PRS313_BC)
PSS009616|
European Ancestry|
5,328,392 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: 5-year absolute risk breast cancer (>3%) AUROC: 0.665 iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM012911 PGS000004
(PRS313_BC)
PSS009609|
European Ancestry|
54,949 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: Incident primary breast cancer AUROC: 0.64 [0.62, 0.66] iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM014886 PGS000004
(PRS313_BC)
PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Cumulus Mammogram Risk Scores β: 0.061 [0.017, 0.105] first 10 principal components
PPM014887 PGS000004
(PRS313_BC)
PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Cumulus percent Mammogram Risk Scores β: 0.06 [0.016, 0.104] first 10 principal components
PPM014888 PGS000004
(PRS313_BC)
PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Altocumulus Mammogram Risk Scores β: 0.081 [0.037, 0.125] first 10 principal components
PPM014889 PGS000004
(PRS313_BC)
PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Cirrocumulus Mammogram Risk Scores β: 0.058 [0.016, 0.101] first 10 principal components
PPM015579 PGS000004
(PRS313_BC)
PSS009990|
Multi-ancestry (including European)|
207,510 individuals
PGP000389 |
Giardiello D et al. Breast Cancer Res (2022)
|Ext.
Reported Trait: Contralateral breast cancer Subdistributional hazard ratio (sHR, 75th vs. 25th quartile): 1.35 [1.31, 1.39] PredictCBC-2.0A Calculated with PredictCBC-2.0A
PPM017271 PGS000004
(PRS313_BC)
PSS010184|
European Ancestry|
200,195 individuals
PGP000455 |
Spaeth EL et al. Cancer Prev Res (Phila) (2023)
|Ext.
Reported Trait: breast cancer HR: 1.45 [1.4, 1.49] C-index: 0.567 [0.556, 0.577]
PPM018546 PGS000004
(PRS313_BC)
PSS011015|
East Asian Ancestry|
8,001 individuals
PGP000478 |
Ohbe H et al. Breast Cancer Res Treat (2022)
|Ext.
Reported Trait: Incident breast cancer C-index: 0.582 (0.018) Improvement in C-index from age-only model: 0.042
Hazard ratio (HR, high vs low tertile): 1.89 [1.25, 2.86]
age
PPM020279 PGS000004
(PRS313_BC)
PSS011321|
African Ancestry|
10,717 individuals
PGP000537 |
Luoh SW et al. Health Equity (2023)
|Ext.
Reported Trait: Incident breast cancer AUROC: 0.579 [0.522, 0.636]
PPM020280 PGS000004
(PRS313_BC)
PSS011322|
European Ancestry|
19,939 individuals
PGP000537 |
Luoh SW et al. Health Equity (2023)
|Ext.
Reported Trait: Incident breast cancer AUROC: 0.622 [0.58, 0.664]
PPM020422 PGS000004
(PRS313_BC)
PSS011356|
European Ancestry|
17,835 individuals
PGP000553 |
Mao X et al. J Natl Cancer Inst (2023)
|Ext.
Reported Trait: Incident breast cancer in women aged 40-54 years at study enrolment HR: 1.68 [1.52, 1.84] Age, genotyping method
PPM020423 PGS000004
(PRS313_BC)
PSS011356|
European Ancestry|
17,835 individuals
PGP000553 |
Mao X et al. J Natl Cancer Inst (2023)
|Ext.
Reported Trait: Incident breast cancer in women aged 55-74 years at study enrolment HR: 1.53 [1.42, 1.65] Age, genotyping method
PPM020424 PGS000004
(PRS313_BC)
PSS011356|
European Ancestry|
17,835 individuals
PGP000553 |
Mao X et al. J Natl Cancer Inst (2023)
|Ext.
Reported Trait: Incident breast cancer in full sisters of women aged 40-54 years at study enrolment HR: 1.27 [1.04, 1.55] Age, genotyping method
PPM020425 PGS000004
(PRS313_BC)
PSS011356|
European Ancestry|
17,835 individuals
PGP000553 |
Mao X et al. J Natl Cancer Inst (2023)
|Ext.
Reported Trait: Incident breast cancer in full sisters of women aged 55-74 years at study enrolment HR: 1.24 [1.07, 1.44] Age, genotyping method
PPM020724 PGS000004
(PRS313_BC)
PSS011385|
European Ancestry|
683 individuals
PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.
Reported Trait: Grade 3 tumour in females with invasive breast cancer OR: 0.8 [0.65, 0.99] Reference = grade 1 tumour
PPM020725 PGS000004
(PRS313_BC)
PSS011385|
European Ancestry|
683 individuals
PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.
Reported Trait: ER negative status in females with invasive breast cancer OR: 0.8 [0.65, 0.99]
PPM020726 PGS000004
(PRS313_BC)
PSS011384|
Additional Asian Ancestries|
12,920 individuals
PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.
Reported Trait: ER negative status in females with invasive breast cancer OR: 0.86 [0.82, 0.89]
PPM020727 PGS000004
(PRS313_BC)
PSS011385|
European Ancestry|
683 individuals
PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.
Reported Trait: PR negative status in females with invasive breast cancer OR: 0.84 [0.71, 1.0]
PPM020728 PGS000004
(PRS313_BC)
PSS011384|
Additional Asian Ancestries|
12,920 individuals
PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.
Reported Trait: PR negative status in females with invasive breast cancer OR: 0.89 [0.86, 0.94]
PPM000006 PGS000005
(PRS313_ERpos)
PSS000005|
European Ancestry|
11,428 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Reported Trait: ER-positive breast cancer OR: 1.68 [1.63, 1.73] AUROC: 0.641 study, genetic PCs 1-15
PPM000964 PGS000005
(PRS313_ERpos)
PSS000486|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.22 [1.15, 1.3] Country
PPM000963 PGS000005
(PRS313_ERpos)
PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer HR: 1.23 [1.16, 1.31] Country
PPM000947 PGS000005
(PRS313_ERpos)
PSS000486|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.22 [1.15, 1.3] Country
PPM000946 PGS000005
(PRS313_ERpos)
PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer HR: 1.23 [1.16, 1.31] Country
PPM000965 PGS000005
(PRS313_ERpos)
PSS000485|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Estrogen-receptor positive metachronous invasive contralateral breast cancer HR: 1.37 [1.22, 1.54] Country
PPM000948 PGS000005
(PRS313_ERpos)
PSS000485|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Estrogen-receptor positive metachronous invasive contralateral breast cancer HR: 1.37 [1.22, 1.54] Country
PPM001018 PGS000005
(PRS313_ERpos)
PSS000521|
European Ancestry|
18,935 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Breast cancer in BRCA1 carriers HR: 1.17 [1.14, 1.2] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001019 PGS000005
(PRS313_ERpos)
PSS000525|
European Ancestry|
12,339 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Breast cancer in BRCA2 carriers HR: 1.3 [1.26, 1.35] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001020 PGS000005
(PRS313_ERpos)
PSS000522|
European Ancestry|
13,401 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER negative breast cancer in BRCA1 carriers HR: 1.06 [1.02, 1.1] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001021 PGS000005
(PRS313_ERpos)
PSS000526|
European Ancestry|
8,752 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER negative breast cancer in BRCA2 carriers HR: 1.15 [1.07, 1.25] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001022 PGS000005
(PRS313_ERpos)
PSS000523|
European Ancestry|
13,401 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER positive breast cancer in BRCA1 carriers HR: 1.45 [1.35, 1.54] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001023 PGS000005
(PRS313_ERpos)
PSS000527|
European Ancestry|
8,752 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER positive breast cancer in BRCA2 carriers HR: 1.37 [1.31, 1.44] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM000654 PGS000005
(PRS313_ERpos)
PSS000361|
European Ancestry|
22,594 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) OR: 1.62 [1.54, 1.7] AUROC: 0.6323
PPM000663 PGS000005
(PRS313_ERpos)
PSS000363|
European Ancestry|
22,821 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (triple negative) OR: 1.59 [1.51, 1.66] AUROC: 0.6276
PPM000660 PGS000005
(PRS313_ERpos)
PSS000359|
European Ancestry|
21,533 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (HER2-enriched-like) OR: 1.59 [1.48, 1.71] AUROC: 0.6291
PPM000657 PGS000005
(PRS313_ERpos)
PSS000362|
European Ancestry|
22,497 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (luminal B-like) OR: 1.66 [1.58, 1.75] AUROC: 0.64
PPM000651 PGS000005
(PRS313_ERpos)
PSS000360|
European Ancestry|
28,140 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (luminal A-like) OR: 1.82 [1.77, 1.87] AUROC: 0.6595
PPM001947 PGS000005
(PRS313_ERpos)
PSS000974|
European Ancestry|
5,714 individuals
PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer in males OR: 1.55 [1.45, 1.66] Odds Ratio (OR, top 20% vs. bottom 20%): 4.01 [3.17, 5.06]
PPM001948 PGS000005
(PRS313_ERpos)
PSS000974|
European Ancestry|
5,714 individuals
PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer in females OR: 1.5 [1.41, 1.6] Odds Ratio (OR, top 20% vs. bottom 20%): 3.26 [2.64, 4.03]
PPM002001 PGS000005
(PRS313_ERpos)
PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Estrogen-receptor positive breast cancer OR: 1.37 [1.32, 1.43] Odds Ratio (OR, top 10% vs. middle 20%): 1.85 [1.61, 2.13] Age, study, PCs(1-10) Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies.
PPM002002 PGS000005
(PRS313_ERpos)
PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Estrogen-receptor positive breast cancer AUROC: 0.588 [0.577, 0.599] Study, PCs(1-10) Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies.
PPM005127 PGS000005
(PRS313_ERpos)
PSS003581|
European Ancestry|
413 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male estrogen receptor positive breast cancer in BRCA1 carriers OR: 1.4 [1.07, 1.83] AUROC: 0.6 [0.51, 0.69] PCs(1-3)
PPM005128 PGS000005
(PRS313_ERpos)
PSS003581|
European Ancestry|
413 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male estrogen receptor positive breast cancer in BRCA1 carriers OR: 1.39 [1.06, 1.82] PCs(1-3), family history of male breast cancer in first and second degree relatives
PPM005129 PGS000005
(PRS313_ERpos)
PSS003581|
European Ancestry|
413 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male estrogen receptor positive breast cancer in BRCA1 carriers OR: 1.46 [1.09, 1.94] PCs(1-3), family history of female breast cancer in first and second degree relatives
PPM005130 PGS000005
(PRS313_ERpos)
PSS003582|
European Ancestry|
1,177 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male estrogen receptor positive breast cancer in BRCA2 carriers OR: 1.33 [1.16, 1.52] AUROC: 0.59 [0.55, 0.63] PCs(1-3)
PPM005131 PGS000005
(PRS313_ERpos)
PSS003582|
European Ancestry|
1,177 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male estrogen receptor positive breast cancer in BRCA2 carriers OR: 1.33 [1.16, 1.53] PCs(1-3), family history of male breast cancer in first and second degree relatives
PPM005132 PGS000005
(PRS313_ERpos)
PSS003582|
European Ancestry|
1,177 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male estrogen receptor positive breast cancer in BRCA2 carriers OR: 1.36 [1.18, 1.57] PCs(1-3), family history of female breast cancer in first and second degree relatives
PPM014895 PGS000005
(PRS313_ERpos)
PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Cumulus Mammogram Risk Scores β: 0.056 [0.012, 0.1] first 10 principal components
PPM014896 PGS000005
(PRS313_ERpos)
PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Cumulus percent Mammogram Risk Scores β: 0.055 [0.011, 0.099] first 10 principal components
PPM014897 PGS000005
(PRS313_ERpos)
PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Altocumulus Mammogram Risk Scores β: 0.078 [0.034, 0.121] first 10 principal components
PPM014898 PGS000005
(PRS313_ERpos)
PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Cirrocumulus Mammogram Risk Scores β: 0.056 [0.014, 0.099] first 10 principal components
PPM000007 PGS000006
(PRS313_ERneg)
PSS000006|
European Ancestry|
11,428 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Reported Trait: ER-negative breast cancer OR: 1.45 [1.37, 1.53] AUROC: 0.601 study, genetic PCs 1-15
PPM000950 PGS000006
(PRS313_ERneg)
PSS000486|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.24 [1.16, 1.33] Country
PPM000949 PGS000006
(PRS313_ERneg)
PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer HR: 1.25 [1.17, 1.33] Country
PPM000967 PGS000006
(PRS313_ERneg)
PSS000486|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.24 [1.16, 1.33] Country
PPM000966 PGS000006
(PRS313_ERneg)
PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer HR: 1.25 [1.17, 1.33] Country
PPM001024 PGS000006
(PRS313_ERneg)
PSS000521|
European Ancestry|
18,935 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Breast cancer in BRCA1 carriers HR: 1.29 [1.25, 1.33] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001025 PGS000006
(PRS313_ERneg)
PSS000525|
European Ancestry|
12,339 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Breast cancer in BRCA2 carriers HR: 1.23 [1.18, 1.27] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001026 PGS000006
(PRS313_ERneg)
PSS000522|
European Ancestry|
13,401 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER negative breast cancer in BRCA1 carriers HR: 1.23 [1.18, 1.27] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001027 PGS000006
(PRS313_ERneg)
PSS000526|
European Ancestry|
8,752 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER negative breast cancer in BRCA2 carriers HR: 1.29 [1.19, 1.41] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001028 PGS000006
(PRS313_ERneg)
PSS000523|
European Ancestry|
13,401 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER positive breast cancer in BRCA1 carriers HR: 1.29 [1.21, 1.37] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001029 PGS000006
(PRS313_ERneg)
PSS000527|
European Ancestry|
8,752 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER positive breast cancer in BRCA2 carriers HR: 1.21 [1.15, 1.27] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001034 PGS000006
(PRS313_ERneg)
PSS000529|
European Ancestry|
2,088 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Incident breast cancer in BRCA1 carriers HR: 1.28 [1.14, 1.44] family history of the appropriate cancer in first- and second-degree relatives
PPM001949 PGS000006
(PRS313_ERneg)
PSS000974|
European Ancestry|
5,714 individuals
PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer in males OR: 1.37 [1.29, 1.47] Odds Ratio (OR, top 20% vs. bottom 20%): 2.39 [1.93, 2.96]
PPM001950 PGS000006
(PRS313_ERneg)
PSS000974|
European Ancestry|
5,714 individuals
PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer in females OR: 1.38 [1.29, 1.47] Odds Ratio (OR, top 20% vs. bottom 20%): 2.51 [2.05, 3.07]
PPM002003 PGS000006
(PRS313_ERneg)
PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Estrogen-receptor negative breast cancer OR: 1.21 [1.15, 1.27] Odds Ratio (OR, top 10% vs. middle 20%): 1.47 [1.25, 1.74] Age, study, PCs(1-10) Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies.
PPM002004 PGS000006
(PRS313_ERneg)
PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Estrogen-receptor negative breast cancer AUROC: 0.562 [0.551, 0.573] Study, PCs(1-10) Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies.
PPM005124 PGS000006
(PRS313_ERneg)
PSS003582|
European Ancestry|
1,177 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male estrogen receptor negative breast cancer in BRCA2 carriers OR: 1.23 [1.07, 1.41] PCs(1-3)
PPM005125 PGS000006
(PRS313_ERneg)
PSS003582|
European Ancestry|
1,177 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male estrogen receptor negative breast cancer in BRCA2 carriers OR: 1.23 [1.07, 1.42] PCs(1-3), family history of male breast cancer in first and second degree relatives
PPM005126 PGS000006
(PRS313_ERneg)
PSS003582|
European Ancestry|
1,177 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male estrogen receptor negative breast cancer in BRCA2 carriers OR: 1.25 [1.09, 1.45] PCs(1-3), family history of female breast cancer in first and second degree relatives
PPM014890 PGS000006
(PRS313_ERneg)
PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Cumulus Mammogram Risk Scores β: 0.059 [0.015, 0.103] first 10 principal components
PPM014892 PGS000006
(PRS313_ERneg)
PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Altocumulus Mammogram Risk Scores β: 0.068 [0.024, 0.112] first 10 principal components
PPM014893 PGS000006
(PRS313_ERneg)
PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Cirrocumulus Mammogram Risk Scores β: 0.046 [0.003, 0.089] first 10 principal components
PPM014894 PGS000006
(PRS313_ERneg)
PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Cumulus-white Mammogram Risk Scores β: 0.045 [0.002, 0.089] first 10 principal components
PPM014891 PGS000006
(PRS313_ERneg)
PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Cumulus percent Mammogram Risk Scores β: 0.065 [0.021, 0.109] first 10 principal components
PPM000008 PGS000007
(PRS3820_BC)
PSS000004|
European Ancestry|
29,751 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Reported Trait: Invasive breast cancer OR: 1.66 [1.61, 1.7] AUROC: 0.636 study, genetic PCs 1-15
PPM000386 PGS000007
(PRS3820_BC)
PSS000218|
European Ancestry|
9,529 individuals
PGP000057 |
Homburger JR et al. Genome Med (2019)
|Ext.
Reported Trait: Breast Cancer (personal history) AUROC: 0.78 age, sex
PPM000384 PGS000007
(PRS3820_BC)
PSS000218|
European Ancestry|
9,529 individuals
PGP000057 |
Homburger JR et al. Genome Med (2019)
|Ext.
Reported Trait: Breast Cancer (personal history) OR: 1.56 [1.45, 1.68] age at menarche
PPM000388 PGS000007
(PRS3820_BC)
PSS000218|
European Ancestry|
9,529 individuals
PGP000057 |
Homburger JR et al. Genome Med (2019)
|Ext.
Reported Trait: Breast Cancer (personal history) AUROC: 0.63
PPM005169 PGS000007
(PRS3820_BC)
PSS003599|
European Ancestry|
33,954 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer AUROC: 0.59 [0.58, 0.6] : 0.021
PPM005172 PGS000007
(PRS3820_BC)
PSS003598|
African Ancestry|
3,801 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer AUROC: 0.53 [0.5, 0.57] : 0.0002
PPM005160 PGS000007
(PRS3820_BC)
PSS003599|
European Ancestry|
33,954 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer OR: 1.36 [1.31, 1.41] Age, family history, study site, 3 ancestry-specific PCs
PPM005163 PGS000007
(PRS3820_BC)
PSS003598|
African Ancestry|
3,801 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer OR: 1.21 [1.06, 1.39] Age, family history, study site, 3 ancestry-specific PCs
PPM015517 PGS000007
(PRS3820_BC)
PSS009971|
Multi-ancestry (including European)|
36,422 individuals
PGP000381 |
Hao L et al. Nat Med (2022)
|Ext.
Reported Trait: Breast cancer OR: 2.38 [2.07, 2.73] 4 genetic PCs
PPM000009 PGS000008
(PRS3820_ERpos)
PSS000005|
European Ancestry|
11,428 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Reported Trait: ER-positive breast cancer OR: 1.73 [1.68, 1.78] AUROC: 0.647 study, genetic PCs 1-15
PPM000010 PGS000009
(PRS3820_ERneg)
PSS000006|
European Ancestry|
11,428 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Reported Trait: ER-negative breast cancer OR: 1.44 [1.36, 1.53] AUROC: 0.6 study, genetic PCs 1-15
PPM000024 PGS000015
(GPS_BC)
PSS000014|
European Ancestry|
157,895 individuals
PGP000006 |
Khera AV et al. Nat Genet (2018)
Reported Trait: Breast cancer AUROC: 0.69 [0.68, 0.69] Nagelkerke’s R2 (estimate of variance explained by the PGS after covariate adjustment): 0.027 age; sex; Ancestry PC 1-4; genotyping chip
PPM005170 PGS000015
(GPS_BC)
PSS003599|
European Ancestry|
33,954 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer AUROC: 0.61 [0.6, 0.62] : 0.017
PPM005161 PGS000015
(GPS_BC)
PSS003599|
European Ancestry|
33,954 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer OR: 1.46 [1.41, 1.51] Odds Ratio (OR, top 1% vs middle 20%): 2.48 [1.89, 3.25] Age, family history, study site, 3 ancestry-specific PCs
PPM005164 PGS000015
(GPS_BC)
PSS003598|
African Ancestry|
3,801 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer OR: 1.24 [1.08, 1.43] Age, family history, study site, 3 ancestry-specific PCs
PPM005166 PGS000015
(GPS_BC)
PSS003600|
Hispanic or Latin American Ancestry|
2,196 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer OR: 1.35 [1.11, 1.64] Age, family history, study site, 3 ancestry-specific PCs
PPM005173 PGS000015
(GPS_BC)
PSS003598|
African Ancestry|
3,801 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer AUROC: 0.55 [0.52, 0.59] : 0.0004
PPM005175 PGS000015
(GPS_BC)
PSS003600|
Hispanic or Latin American Ancestry|
2,196 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer AUROC: 0.56 [0.51, 0.6] : 0.001
PPM000056 PGS000028
(PRS)
PSS000040|
Multi-ancestry (including European)|
981 individuals
PGP000018 |
Shieh Y et al. Breast Cancer Res Treat (2016)
Reported Trait: Breast cancer AUROC: 0.65 [0.61, 0.68] BCSC risk model BCSC risk model includes mammographic breast density, age, ethnicity, first-degree relative with breast cancer, and history of breast biopsy
PPM000055 PGS000028
(PRS)
PSS000040|
Multi-ancestry (including European)|
981 individuals
PGP000018 |
Shieh Y et al. Breast Cancer Res Treat (2016)
Reported Trait: Breast cancer AUROC: 0.6 [0.57, 0.64]
PPM000060 PGS000028
(PRS)
PSS000039|
European Ancestry|
774 individuals
PGP000018 |
Shieh Y et al. Breast Cancer Res Treat (2016)
Reported Trait: Breast cancer AUROC: 0.63 [0.59, 0.67]
PPM000059 PGS000028
(PRS)
PSS000038|
East Asian Ancestry|
102 individuals
PGP000018 |
Shieh Y et al. Breast Cancer Res Treat (2016)
Reported Trait: Breast cancer AUROC: 0.62 [0.52, 0.73]
PPM000058 PGS000029
(PRS_AS)
PSS000038|
East Asian Ancestry|
102 individuals
PGP000018 |
Shieh Y et al. Breast Cancer Res Treat (2016)
Reported Trait: Breast cancer AUROC: 0.72 [0.62, 0.82] BCSC risk model BCSC risk model includes mammographic breast density, age, ethnicity, first-degree relative with breast cancer, and history of breast biopsy
PPM000057 PGS000029
(PRS_AS)
PSS000038|
East Asian Ancestry|
102 individuals
PGP000018 |
Shieh Y et al. Breast Cancer Res Treat (2016)
Reported Trait: Breast cancer AUROC: 0.64 [0.53, 0.74]
PPM000120 PGS000045
(BCPRS_Overall)
PSS000074|
European Ancestry|
1,590 individuals
PGP000034 |
Lecarpentier J et al. J Clin Oncol (2017)
|Ext.
Reported Trait: Breast cancer in male carriers of BRCA1/2 mutations OR: 1.36 [1.19, 1.56] AUROC: 0.59 [0.55, 0.63] 3 PCs of ancestry, age at breast or prostate cancer for patient-cases and age at interview for controls, mutation status of BRCA1 or BRCA2 PGS predicting Male Breast Cancer are based on association statistics from a Female Breast Cancer GWAS
PPM000106 PGS000045
(BCPRS_Overall)
PSS000070|
European Ancestry|
15,252 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.14 [1.11, 1.17] C-index: 0.541 [0.53, 0.551] Country, birth year
PPM000107 PGS000045
(BCPRS_Overall)
PSS000071|
European Ancestry|
8,211 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.22 [1.17, 1.28] C-index: 0.566 [0.551, 0.581] Country, birth year
PPM002156 PGS000045
(BCPRS_Overall)
PSS001054|
European Ancestry|
760 individuals
PGP000198 |
Borde J et al. J Natl Cancer Inst (2020)
|Ext.
Reported Trait: Breast cancer in CHEK2 mutation carriers HR: 1.9 [1.32, 2.75] Year of birth, counselling center of origin, PRS*c.1100delC carrier status Only 81 of the original 88 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 81 SNPs used, 7 were proxies R^2>0.8.
PPM002155 PGS000045
(BCPRS_Overall)
PSS001054|
European Ancestry|
760 individuals
PGP000198 |
Borde J et al. J Natl Cancer Inst (2020)
|Ext.
Reported Trait: Breast cancer in CHEK2 mutation carriers HR: 1.71 [1.37, 2.13] Year of birth, counselling center of origin Only 81 of the original 88 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 81 SNPs used, 7 were proxies R^2>0.8.
PPM002157 PGS000045
(BCPRS_Overall)
PSS001054|
European Ancestry|
760 individuals
PGP000198 |
Borde J et al. J Natl Cancer Inst (2020)
|Ext.
Reported Trait: Breast cancer in CHEK2 mutation carriers 40 years of age or below HR: 1.59 [1.2, 2.11] Year of birth, counselling center of origin Only 81 of the original 88 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 81 SNPs used, 7 were proxies R^2>0.8.
PPM002158 PGS000045
(BCPRS_Overall)
PSS001054|
European Ancestry|
760 individuals
PGP000198 |
Borde J et al. J Natl Cancer Inst (2020)
|Ext.
Reported Trait: Breast cancer in CHEK2 mutation carriers between 41 and 50 years of age HR: 2.07 [1.53, 2.82] Year of birth, counselling center of origin Only 81 of the original 88 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 81 SNPs used, 7 were proxies R^2>0.8.
PPM002159 PGS000045
(BCPRS_Overall)
PSS001054|
European Ancestry|
760 individuals
PGP000198 |
Borde J et al. J Natl Cancer Inst (2020)
|Ext.
Reported Trait: Breast cancer in CHEK2 mutation carriers between 51 and 60 years of age HR: 1.56 [1.05, 2.31] Year of birth, counselling center of origin Only 81 of the original 88 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 81 SNPs used, 7 were proxies R^2>0.8.
PPM014912 PGS000045
(BCPRS_Overall)
PSS009925|
Ancestry Not Reported|
295 individuals
PGP000355 |
Borde J et al. BMC Cancer (2022)
|Ext.
Reported Trait: Breast cancer in BRAC1 PV carriers OR: 1.62 [1.16, 2.31] effective SNP set size of N=77
PPM000121 PGS000046
(BCPRS_ER+)
PSS000074|
European Ancestry|
1,590 individuals
PGP000034 |
Lecarpentier J et al. J Clin Oncol (2017)
|Ext.
Reported Trait: Breast cancer in male carriers of BRCA1/2 mutations OR: 1.36 [1.19, 1.56] AUROC: 0.59 [0.55, 0.63] 3 PCs of ancestry, age at breast or prostate cancer for patient-cases and age at interview for controls, mutation status of BRCA1 or BRCA2 PGS predicting Male Breast Cancer are based on association statistics from a Female Breast Cancer GWAS
PPM000108 PGS000046
(BCPRS_ER+)
PSS000070|
European Ancestry|
15,252 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.11 [1.08, 1.15] C-index: 0.532 [0.522, 0.543] Country, birth year
PPM000109 PGS000046
(BCPRS_ER+)
PSS000071|
European Ancestry|
8,211 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.22 [1.16, 1.27] C-index: 0.566 [0.551, 0.581] Country, birth year
PPM000122 PGS000047
(BCPRS_ER-)
PSS000074|
European Ancestry|
1,590 individuals
PGP000034 |
Lecarpentier J et al. J Clin Oncol (2017)
|Ext.
Reported Trait: Breast cancer in male carriers of BRCA1/2 mutations OR: 1.19 [1.05, 1.35] AUROC: 0.55 [0.51, 0.59] 3 PCs of ancestry, age at breast or prostate cancer for patient-cases and age at interview for controls, mutation status of BRCA1 or BRCA2 PGS predicting Male Breast Cancer are based on association statistics from a Female Breast Cancer GWAS
PPM000110 PGS000047
(BCPRS_ER-)
PSS000070|
European Ancestry|
15,252 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.27 [1.23, 1.31] C-index: 0.581 [0.571, 0.592] Country, birth year
PPM000111 PGS000047
(BCPRS_ER-)
PSS000071|
European Ancestry|
8,211 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.15 [1.1, 1.2] C-index: 0.538 [0.523, 0.553] Country, birth year
PPM014913 PGS000047
(BCPRS_ER-)
PSS009925|
Ancestry Not Reported|
295 individuals
PGP000355 |
Borde J et al. BMC Cancer (2022)
|Ext.
Reported Trait: Estrogen receptor [ER]-negative breast cancer in BRAC2 PV carriers OR: 2.27 [1.45, 3.78] effective SNP set size of N=50
PPM000126 PGS000050
(PRS44)
PSS000078|
East Asian Ancestry|
23,567 individuals
PGP000035 |
Wen W et al. Breast Cancer Res (2016)
Reported Trait: Breast cancer AUROC: 0.606 Odds Ratio (OR; per decile of PRS): 1.13 [1.12, 1.14] NR Potentially overfit: samples were used to select the variants included in the PRS (see paper's Discussion section for more information).
PPM000127 PGS000050
(PRS44)
PSS000079|
East Asian Ancestry|
5,152 individuals
PGP000035 |
Wen W et al. Breast Cancer Res (2016)
Reported Trait: Breast cancer C-index: 0.602 C-index improvement (with PRS): 0.0386 [0.0259, 0.0513] age at menarche, age at first live birth, waist-to-hip ratio, breast cancer family history, prior benign breast disease Potentially overfit: samples were used to select the variants included in the PRS (see paper's Discussion section for more information).
PPM000128 PGS000051
(PRS67)
PSS000080|
Multi-ancestry (including European)|
11,880 individuals
PGP000036 |
Zhang X et al. PLoS Med (2018)
Reported Trait: Invasive breast cancer AUROC: 0.65 [0.64, 0.66] Gail BC risk model, Mammographic density (MD), Testoterone (T), estrone sulfate (E1S), prolactin (PRL) Age-adjusted AUC
PPM000130 PGS000051
(PRS67)
PSS000080|
Multi-ancestry (including European)|
11,880 individuals
PGP000036 |
Zhang X et al. PLoS Med (2018)
Reported Trait: Invasive breast cancer Relative Risk (RR; higest vs. lowest quartile PRS): 2.5 [2.2, 2.8] Demographics and parameters of baseline blood draw (age, BMI, fasting status, time of day, season), history of benign breast disease, family history of breast cancer, age at menopause, age at menarche, physical activity, age at first birth and parity
PPM000129 PGS000051
(PRS67)
PSS000081|
Multi-ancestry (including European)|
8,160 individuals
PGP000036 |
Zhang X et al. PLoS Med (2018)
Reported Trait: Invasive breast cancer AUROC: 0.678 [0.666, 0.69] Rosner-Colditz BC risk model, Mammographic density (MD), Testoterone (T), estrone sulfate (E1S), prolactin (PRL) Age-adjusted AUC
PPM000131 PGS000052
(sPRS161)
PSS000082|
European Ancestry|
585 individuals
PGP000037 |
Lakeman IMM et al. J Med Genet (2019)
Reported Trait: breast cancer HR: 1.16 [1.03, 1.28] family history (estimated using the BOADICEA risk model)
PPM000192 PGS000072
(CC_Breast)
PSS000111|
European Ancestry|
237,549 individuals
PGP000050 |
Graff RE et al. Nat Commun (2021)
Reported Trait: Breast cancer OR: 1.26 [1.24, 1.28] Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, 10 PCs. Results from meta-analysis of GERA and UKB
PPM002038 PGS000072
(CC_Breast)
PSS001011|
European Ancestry|
216,273 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
|Ext.
Reported Trait: Incident breast cancer HR: 1.52 [1.47, 1.56] AUROC: 0.637
C-index: 632.0 (0.005)
Age at assessment, family history of breast cancer, genotyping array, PCs(1-15), parity( ≥1 live birth vs. none), age at menarche, body mass index, menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use, alcool intake, body mass index*menopausal status Only 162 of the original 187 SNPs used based on those that reached p<5e-8 in the BCAC meta-analysis. C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM017165 PGS000072
(CC_Breast)
PSS010142|
European Ancestry|
1,990 individuals
PGP000443 |
Byrne S et al. Int J Epidemiol (2023)
|Ext.
Reported Trait: Post-menopausal breast cancer HR: 1.26 [1.2, 1.32] age at baseline, sex (where relevant), assessment centre, 40 principal components of ancestries (PCs), Townsend Index, education, birth location, income, lifestyle index, additional cancer-specific covariates
PPM000484 PGS000153
(cGRS_Breast)
PSS000273|
European Ancestry|
7,847 individuals
PGP000075 |
Shi Z et al. Cancer Med (2019)
Reported Trait: Breast cancer Odds Ratio (OR; high vs. average risk groups): 1.47 [1.23, 1.76]
PPM000473 PGS000153
(cGRS_Breast)
PSS000273|
European Ancestry|
7,847 individuals
PGP000075 |
Shi Z et al. Cancer Med (2019)
Reported Trait: Breast cancer Mean realative risk: 1.15 [1.11, 1.2]
Wilcoxon test (case vs. control) p-value: 1.48e-14
PPM000649 PGS000212
(PRS330_LumA)
PSS000360|
European Ancestry|
28,140 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
Reported Trait: Breast cancer intrinsic-like subtype (luminal A-like) OR: 1.83 [1.78, 1.88] AUROC: 0.6609
PPM000652 PGS000213
(PRS330_LumBHER2neg)
PSS000361|
European Ancestry|
22,594 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
Reported Trait: Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) OR: 1.62 [1.54, 1.7] AUROC: 0.633
PPM000655 PGS000214
(PRS330_LumB)
PSS000362|
European Ancestry|
22,497 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
Reported Trait: Breast cancer intrinsic-like subtype (luminal B-like) OR: 1.69 [1.61, 1.77] AUROC: 0.6431
PPM000658 PGS000215
(PRS330_HER2)
PSS000359|
European Ancestry|
21,533 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
Reported Trait: Breast cancer intrinsic-like subtype (HER2-enriched-like) OR: 1.53 [1.42, 1.65] AUROC: 0.6208
PPM000661 PGS000216
(PRS330_TN)
PSS000363|
European Ancestry|
22,821 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
Reported Trait: Breast cancer intrinsic-like subtype (triple negative) OR: 1.65 [1.57, 1.73] AUROC: 0.6358
PPM000849 PGS000317
(PRS180)
PSS000407|
Hispanic or Latin American Ancestry|
2,001 individuals
PGP000094 |
Shieh Y et al. J Natl Cancer Inst (2020)
Reported Trait: Breast cancer (Latin american women) OR: 1.54 [1.45, 1.63] AUROC: 0.62 [0.61, 0.64] study, genetic ancestry (ADMIXTURE)
PPM000848 PGS000317
(PRS180)
PSS000408|
Hispanic or Latin American Ancestry|
7,317 individuals
PGP000094 |
Shieh Y et al. J Natl Cancer Inst (2020)
Reported Trait: Breast cancer (US Latinas) OR: 1.62 [1.52, 1.71] AUROC: 0.63 [0.62, 0.65] study, genetic ancestry (ADMIXTURE)
PPM000846 PGS000317
(PRS180)
PSS000406|
Hispanic or Latin American Ancestry|
12,280 individuals
PGP000094 |
Shieh Y et al. J Natl Cancer Inst (2020)
Reported Trait: Breast cancer OR: 1.58 [1.52, 1.64] AUROC: 0.63 [0.62, 0.64] study, genetic ancestry (ADMIXTURE)
PPM000847 PGS000317
(PRS180)
PSS000406|
Hispanic or Latin American Ancestry|
12,280 individuals
PGP000094 |
Shieh Y et al. J Natl Cancer Inst (2020)
Reported Trait: Breast cancer OR: 1.7 [1.63, 1.78]
PPM005167 PGS000317
(PRS180)
PSS003600|
Hispanic or Latin American Ancestry|
2,196 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer OR: 1.2 [1.0, 1.46] Age, family history, study site, 3 ancestry-specific PCs
PPM005176 PGS000317
(PRS180)
PSS003600|
Hispanic or Latin American Ancestry|
2,196 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer AUROC: 0.54 [0.47, 0.62] : 0.05
PPM000899 PGS000332
(PRS_BC)
PSS000444|
European Ancestry|
37,841 individuals
PGP000100 |
Mars N et al. Nat Med (2020)
Reported Trait: Incident breast cancer C-index: 0.75 age, family history of breast cancer, current smoking, BMI, alcohol use disorder, years of hormone replacement therapy, having given birth to one or more children, genotyping array/batch, 10 ancestry PCs 10-year risk
PPM000894 PGS000332
(PRS_BC)
PSS000444|
European Ancestry|
37,841 individuals
PGP000100 |
Mars N et al. Nat Med (2020)
Reported Trait: Incident breast cancer C-index: 0.737 age, genotyping array/batch, 10 ancestry PCs 10-year risk
PPM001346 PGS000332
(PRS_BC)
PSS000450|
European Ancestry|
122,978 individuals
PGP000102 |
Mars N et al. Nat Commun (2020)
|Ext.
Reported Trait: Breast cancer HR: 1.63 [1.6, 1.67] 10 ancestry PCs, batch, age as time scale
PPM001348 PGS000332
(PRS_BC)
PSS000450|
European Ancestry|
122,978 individuals
PGP000102 |
Mars N et al. Nat Commun (2020)
|Ext.
Reported Trait: Breast cancer OR: 1.71 [1.67, 1.75] Age, 10 ancestry PCs, batch
PPM000889 PGS000332
(PRS_BC)
PSS000443|
European Ancestry|
76,173 individuals
PGP000100 |
Mars N et al. Nat Med (2020)
Reported Trait: Breast cancer (incident and prevalent cases) HR: 1.64 [1.6, 1.69] genotyping array/batch, 10 ancestry PCs
PPM000903 PGS000335
(BC_PRSCS)
PSS000450|
European Ancestry|
122,978 individuals
PGP000102 |
Mars N et al. Nat Commun (2020)
Reported Trait: Breast cancer OR: 1.8 [1.76, 1.84] Age, 10 ancestry PCs, batch
PPM000902 PGS000335
(BC_PRSCS)
PSS000450|
European Ancestry|
122,978 individuals
PGP000102 |
Mars N et al. Nat Commun (2020)
Reported Trait: Breast cancer HR: 1.71 [1.68, 1.75] 10 ancestry PCs, batch, age as time scale
PPM000979 PGS000344
(PRS287_BC)
PSS000497|
Additional Asian Ancestries|
2,719 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: Breast cancer OR: 1.36 [1.25, 1.49] AUROC: 0.577 PCs (1-10), study, array,batch Standardised to SDs of PRs in European controls
PPM000976 PGS000344
(PRS287_BC)
PSS000494|
Multi-ancestry (excluding European)|
14,406 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: Breast cancer OR: 1.55 [1.5, 1.61] PCs (1-10), study, array,batch
PPM000973 PGS000344
(PRS287_BC)
PSS000491|
Additional Asian Ancestries|
32,238 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: Breast cancer OR: 1.52 [1.49, 1.56] AUROC: 0.613 PCs (1-10), study, array,batch Standardised to SDs of PRs in European controls
PPM000983 PGS000345
(PRS229_BC)
PSS000491|
Additional Asian Ancestries|
32,238 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: Breast cancer OR: 1.49 [1.45, 1.52] AUROC: 0.611 PCs (1-10), study, array,batch Standardised to SDs of PRs in European controls
PPM000982 PGS000345
(PRS229_BC)
PSS000500|
East Asian Ancestry|
10,255 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: Incident breast cancer HR: 1.49 [1.33, 1.67] C-index: 0.61 PCs (1-7), study, array,batch Standardised to SDs of PRs in European controls
PPM000984 PGS000345
(PRS229_BC)
PSS000497|
Additional Asian Ancestries|
2,719 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: Breast cancer OR: 1.33 [1.22, 1.45] AUROC: 0.579 PCs (1-10), study, array,batch Standardised to SDs of PRs in European controls
PPM000981 PGS000346
(PRS287_ERneg)
PSS000498|
Additional Asian Ancestries|
1,492 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: ER-negative breast cancer OR: 1.49 [1.26, 1.75] AUROC: 0.587 PCs (1-10), study, array,batch Standardised to SDs of PRs in European controls
PPM000978 PGS000346
(PRS287_ERneg)
PSS000495|
Multi-ancestry (excluding European)|
9,391 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: ER-negative breast cancer OR: 1.43 [1.35, 1.52] PCs (1-10), study, array,batch
PPM000975 PGS000346
(PRS287_ERneg)
PSS000493|
Additional Asian Ancestries|
21,247 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: ER-negative breast cancer OR: 1.41 [1.36, 1.46] AUROC: 0.594 PCs (1-10), study, array,batch Standardised to SDs of PRs in European controls
PPM000980 PGS000347
(PRS287_ERpos)
PSS000499|
Additional Asian Ancestries|
2,234 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: ER-positive breast cancer OR: 1.38 [1.25, 1.53] AUROC: 0.586 PCs (1-10), study, array,batch Standardised to SDs of PRs in European controls
PPM000977 PGS000347
(PRS287_ERpos)
PSS000496|
Multi-ancestry (excluding European)|
12,222 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: ER-positive breast cancer OR: 1.59 [1.53, 1.66] PCs (1-10), study, array,batch
PPM000974 PGS000347
(PRS287_ERpos)
PSS000492|
Additional Asian Ancestries|
26,960 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: ER-positive breast cancer OR: 1.62 [1.57, 1.67] AUROC: 0.627 PCs (1-10), study, array,batch Standardised to SDs of PRs in European controls
PPM001157 PGS000472
(PRSWEB_PHECODE174.1_20001-1002_P_5e-08_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.343 [1.266, 1.426]
β: 0.295 (0.0303)
AUROC: 0.579 [0.561, 0.597] Nagelkerke's Pseudo-R²: 0.0204
Brier score: 0.138
Odds Ratio (OR, top 1% vs. Rest): 2.32 [1.49, 3.61]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_20001-1002_P_5e-08_MGI_20200608
PPM001158 PGS000473
(PRSWEB_PHECODE174.1_20001-1002_PRS-CS_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.315 [1.238, 1.398]
β: 0.274 (0.0311)
AUROC: 0.576 [0.56, 0.592] Nagelkerke's Pseudo-R²: 0.0167
Brier score: 0.138
Odds Ratio (OR, top 1% vs. Rest): 1.6 [0.981, 2.62]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_20001-1002_PRS-CS_MGI_20200608
PPM001159 PGS000474
(PRSWEB_PHECODE174.1_20001-1002_PT_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.338 [1.26, 1.422]
β: 0.291 (0.0308)
AUROC: 0.58 [0.563, 0.597] Nagelkerke's Pseudo-R²: 0.0188
Brier score: 0.138
Odds Ratio (OR, top 1% vs. Rest): 1.54 [0.924, 2.56]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_20001-1002_PT_MGI_20200608
PPM001160 PGS000475
(PRSWEB_PHECODE174.1_20001-1002_LASSOSUM_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.349 [1.269, 1.434]
β: 0.299 (0.0312)
AUROC: 0.586 [0.57, 0.603] Nagelkerke's Pseudo-R²: 0.0196
Brier score: 0.138
Odds Ratio (OR, top 1% vs. Rest): 1.59 [0.962, 2.62]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_20001-1002_LASSOSUM_MGI_20200608
PPM001161 PGS000476
(PRSWEB_PHECODE174.1_C3-BREAST-3_P_5e-08_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.365 [1.286, 1.45]
β: 0.311 (0.0305)
AUROC: 0.585 [0.569, 0.603] Nagelkerke's Pseudo-R²: 0.0218
Brier score: 0.138
Odds Ratio (OR, top 1% vs. Rest): 1.97 [1.24, 3.14]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C3-BREAST-3_P_5e-08_MGI_20200608
PPM001162 PGS000477
(PRSWEB_PHECODE174.1_C3-BREAST-3_PRS-CS_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.338 [1.259, 1.421]
β: 0.291 (0.0308)
AUROC: 0.581 [0.564, 0.597] Nagelkerke's Pseudo-R²: 0.0193
Brier score: 0.138
Odds Ratio (OR, top 1% vs. Rest): 2.17 [1.38, 3.41]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C3-BREAST-3_PRS-CS_MGI_20200608
PPM001163 PGS000478
(PRSWEB_PHECODE174.1_C3-BREAST-3_PT_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.411 [1.328, 1.5]
β: 0.344 (0.031)
AUROC: 0.595 [0.578, 0.611] Nagelkerke's Pseudo-R²: 0.0257
Brier score: 0.137
Odds Ratio (OR, top 1% vs. Rest): 2.31 [1.47, 3.61]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C3-BREAST-3_PT_MGI_20200608
PPM001164 PGS000479
(PRSWEB_PHECODE174.1_C3-BREAST-3_LASSOSUM_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.438 [1.354, 1.528]
β: 0.364 (0.0308)
AUROC: 0.6 [0.584, 0.616] Nagelkerke's Pseudo-R²: 0.03
Brier score: 0.137
Odds Ratio (OR, top 1% vs. Rest): 2.37 [1.54, 3.65]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C3-BREAST-3_LASSOSUM_MGI_20200608
PPM001165 PGS000480
(PRSWEB_PHECODE174.1_C50_P_5e-08_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.33 [1.253, 1.412]
β: 0.285 (0.0304)
AUROC: 0.576 [0.559, 0.593] Nagelkerke's Pseudo-R²: 0.0186
Brier score: 0.138
Odds Ratio (OR, top 1% vs. Rest): 1.91 [1.2, 3.03]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C50_P_5e-08_MGI_20200608
PPM001166 PGS000481
(PRSWEB_PHECODE174.1_C50_PRS-CS_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.323 [1.246, 1.406]
β: 0.28 (0.0307)
AUROC: 0.578 [0.56, 0.596] Nagelkerke's Pseudo-R²: 0.0183
Brier score: 0.138
Odds Ratio (OR, top 1% vs. Rest): 2.03 [1.29, 3.2]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C50_PRS-CS_MGI_20200608
PPM001167 PGS000482
(PRSWEB_PHECODE174.1_C50_PT_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.358 [1.279, 1.442]
β: 0.306 (0.0306)
AUROC: 0.584 [0.568, 0.601] Nagelkerke's Pseudo-R²: 0.0212
Brier score: 0.138
Odds Ratio (OR, top 1% vs. Rest): 1.43 [0.853, 2.41]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C50_PT_MGI_20200608
PPM001168 PGS000483
(PRSWEB_PHECODE174.1_C50_LASSOSUM_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.404 [1.322, 1.491]
β: 0.339 (0.0308)
AUROC: 0.595 [0.579, 0.61] Nagelkerke's Pseudo-R²: 0.0264
Brier score: 0.137
Odds Ratio (OR, top 1% vs. Rest): 2.05 [1.3, 3.24]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C50_LASSOSUM_MGI_20200608
PPM001169 PGS000484
(PRSWEB_PHECODE174.1_D05_PT_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.12 [1.056, 1.187]
β: 0.113 (0.0297)
AUROC: 0.52 [0.504, 0.538] Nagelkerke's Pseudo-R²: 0.00286
Brier score: 0.139
Odds Ratio (OR, top 1% vs. Rest): 1.39 [0.817, 2.36]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_D05_PT_MGI_20200608
PPM001170 PGS000485
(PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_P_5e-08_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.488 [1.399, 1.582]
β: 0.397 (0.0313)
AUROC: 0.607 [0.589, 0.623] Nagelkerke's Pseudo-R²: 0.0346
Brier score: 0.136
Odds Ratio (OR, top 1% vs. Rest): 3.06 [2.04, 4.6]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_P_5e-08_MGI_20200608
PPM001171 PGS000486
(PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_P_5e-08_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.4 [1.363, 1.437]
β: 0.336 (0.0134)
AUROC: 0.592 [0.585, 0.6] Nagelkerke's Pseudo-R²: 0.0202
Brier score: 0.082
Odds Ratio (OR, top 1% vs. Rest): 2.58 [2.16, 3.07]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_P_5e-08_UKB_20200608
PPM001172 PGS000487
(PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.488 [1.399, 1.582]
β: 0.397 (0.0313)
AUROC: 0.607 [0.589, 0.623] Nagelkerke's Pseudo-R²: 0.0346
Brier score: 0.136
Odds Ratio (OR, top 1% vs. Rest): 3.06 [2.04, 4.6]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_MGI_20200608
PPM001173 PGS000488
(PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.426 [1.389, 1.464]
β: 0.355 (0.0134)
AUROC: 0.598 [0.59, 0.605] Nagelkerke's Pseudo-R²: 0.0226
Brier score: 0.0819
Odds Ratio (OR, top 1% vs. Rest): 2.68 [2.25, 3.18]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_UKB_20200608
PPM001174 PGS000489
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_P_5e-08_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.254 [1.181, 1.33]
β: 0.226 (0.0304)
AUROC: 0.564 [0.547, 0.58] Nagelkerke's Pseudo-R²: 0.012
Brier score: 0.139
Odds Ratio (OR, top 1% vs. Rest): 1.72 [1.05, 2.81]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_P_5e-08_MGI_20200608
PPM001175 PGS000490
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_P_5e-08_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] β: 0.221 (0.0132)
OR: 1.248 [1.216, 1.28]
AUROC: 0.559 [0.551, 0.566] Nagelkerke's Pseudo-R²: 0.00891
Brier score: 0.0824
Odds Ratio (OR, top 1% vs. Rest): 2.03 [1.67, 2.46]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_P_5e-08_UKB_20200608
PPM001176 PGS000491
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PRS-CS_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.326 [1.246, 1.411]
β: 0.282 (0.0317)
AUROC: 0.578 [0.56, 0.594] Nagelkerke's Pseudo-R²: 0.0179
Brier score: 0.138
Odds Ratio (OR, top 1% vs. Rest): 1.8 [1.13, 2.88]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PRS-CS_MGI_20200608
PPM001177 PGS000492
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PRS-CS_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.33 [1.296, 1.366]
β: 0.286 (0.0134)
AUROC: 0.579 [0.572, 0.586] Nagelkerke's Pseudo-R²: 0.0146
Brier score: 0.0822
Odds Ratio (OR, top 1% vs. Rest): 2.34 [1.95, 2.82]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PRS-CS_UKB_20200608
PPM001178 PGS000493
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PT_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.31 [1.234, 1.391]
β: 0.27 (0.0306)
AUROC: 0.576 [0.559, 0.593] Nagelkerke's Pseudo-R²: 0.0173
Brier score: 0.138
Odds Ratio (OR, top 1% vs. Rest): 1.84 [1.14, 2.97]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PT_MGI_20200608
PPM001179 PGS000494
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PT_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.248 [1.216, 1.28]
β: 0.221 (0.0132)
AUROC: 0.559 [0.551, 0.566] Nagelkerke's Pseudo-R²: 0.00891
Brier score: 0.0824
Odds Ratio (OR, top 1% vs. Rest): 2.03 [1.67, 2.46]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PT_UKB_20200608
PPM001180 PGS000495
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_LASSOSUM_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.297 [1.221, 1.377]
β: 0.26 (0.0307)
AUROC: 0.571 [0.555, 0.588] Nagelkerke's Pseudo-R²: 0.0152
Brier score: 0.138
Odds Ratio (OR, top 1% vs. Rest): 1.87 [1.16, 3.01]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_LASSOSUM_MGI_20200608
PPM001181 PGS000496
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_LASSOSUM_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.323 [1.289, 1.358]
β: 0.28 (0.0133)
AUROC: 0.576 [0.568, 0.583] Nagelkerke's Pseudo-R²: 0.0141
Brier score: 0.0822
Odds Ratio (OR, top 1% vs. Rest): 2.25 [1.86, 2.71]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_LASSOSUM_UKB_20200608
PPM001182 PGS000497
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.521 [1.43, 1.619]
β: 0.42 (0.0316)
AUROC: 0.614 [0.599, 0.63] Nagelkerke's Pseudo-R²: 0.0383
Brier score: 0.136
Odds Ratio (OR, top 1% vs. Rest): 2.35 [1.51, 3.66]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_MGI_20200608
PPM001183 PGS000498
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.513 [1.474, 1.553]
β: 0.414 (0.0133)
AUROC: 0.613 [0.606, 0.621] Nagelkerke's Pseudo-R²: 0.0311
Brier score: 0.0815
Odds Ratio (OR, top 1% vs. Rest): 2.71 [2.28, 3.23]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608
PPM001184 PGS000499
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PRS-CS_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.708 [1.601, 1.822]
β: 0.535 (0.033)
AUROC: 0.643 [0.627, 0.658] Nagelkerke's Pseudo-R²: 0.0603
Brier score: 0.134
Odds Ratio (OR, top 1% vs. Rest): 3.71 [2.52, 5.47]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PRS-CS_MGI_20200608
PPM001185 PGS000500
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PRS-CS_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.674 [1.63, 1.719]
β: 0.515 (0.0137)
AUROC: 0.64 [0.634, 0.647] Nagelkerke's Pseudo-R²: 0.0463
Brier score: 0.0809
Odds Ratio (OR, top 1% vs. Rest): 3.64 [3.12, 4.25]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PRS-CS_UKB_20200608
PPM001186 PGS000501
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PT_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.564 [1.469, 1.665]
β: 0.447 (0.0318)
AUROC: 0.621 [0.605, 0.638] Nagelkerke's Pseudo-R²: 0.0438
Brier score: 0.136
Odds Ratio (OR, top 1% vs. Rest): 2.7 [1.77, 4.1]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PT_MGI_20200608
PPM001187 PGS000502
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PT_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.555 [1.514, 1.596]
β: 0.441 (0.0135)
AUROC: 0.621 [0.614, 0.628] Nagelkerke's Pseudo-R²: 0.0347
Brier score: 0.0814
Odds Ratio (OR, top 1% vs. Rest): 3.36 [2.87, 3.95]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PT_UKB_20200608
PPM001188 PGS000503
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_LASSOSUM_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.656 [1.554, 1.766]
β: 0.505 (0.0326)
AUROC: 0.634 [0.618, 0.65] Nagelkerke's Pseudo-R²: 0.0546
Brier score: 0.135
Odds Ratio (OR, top 1% vs. Rest): 4.03 [2.78, 5.85]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_LASSOSUM_MGI_20200608
PPM001189 PGS000504
(PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_LASSOSUM_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.621 [1.578, 1.665]
β: 0.483 (0.0136)
AUROC: 0.631 [0.624, 0.638] Nagelkerke's Pseudo-R²: 0.0408
Brier score: 0.0811
Odds Ratio (OR, top 1% vs. Rest): 3.86 [3.31, 4.5]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_LASSOSUM_UKB_20200608
PPM001190 PGS000505
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_P_5e-08_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.584 [1.488, 1.686]
β: 0.46 (0.0318)
AUROC: 0.625 [0.609, 0.641] Nagelkerke's Pseudo-R²: 0.0462
Brier score: 0.136
Odds Ratio (OR, top 1% vs. Rest): 3.32 [2.24, 4.93]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_P_5e-08_MGI_20200608
PPM001191 PGS000506
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_P_5e-08_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.567 [1.526, 1.609]
β: 0.449 (0.0134)
AUROC: 0.622 [0.615, 0.63] Nagelkerke's Pseudo-R²: 0.0361
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 3.69 [3.16, 4.31]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_P_5e-08_UKB_20200608
PPM001192 PGS000507
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.772 [1.659, 1.891]
β: 0.572 (0.0334)
AUROC: 0.651 [0.635, 0.666] Nagelkerke's Pseudo-R²: 0.0661
Brier score: 0.133
Odds Ratio (OR, top 1% vs. Rest): 3.22 [2.15, 4.81]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_MGI_20200608
PPM001193 PGS000508
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.756 [1.709, 1.804]
β: 0.563 (0.0138)
AUROC: 0.652 [0.645, 0.658] Nagelkerke's Pseudo-R²: 0.0548
Brier score: 0.0805
Odds Ratio (OR, top 1% vs. Rest): 4.38 [3.79, 5.07]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_UKB_20200608
PPM001194 PGS000509
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.643 [1.542, 1.75]
β: 0.496 (0.0323)
AUROC: 0.635 [0.618, 0.651] Nagelkerke's Pseudo-R²: 0.0532
Brier score: 0.135
Odds Ratio (OR, top 1% vs. Rest): 2.84 [1.88, 4.28]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_MGI_20200608
PPM001195 PGS000510
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.612 [1.57, 1.656]
β: 0.478 (0.0136)
AUROC: 0.63 [0.623, 0.637] Nagelkerke's Pseudo-R²: 0.0401
Brier score: 0.0811
Odds Ratio (OR, top 1% vs. Rest): 3.32 [2.83, 3.9]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_UKB_20200608
PPM001196 PGS000511
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.7 [1.594, 1.813]
β: 0.53 (0.0328)
AUROC: 0.641 [0.625, 0.656] Nagelkerke's Pseudo-R²: 0.0592
Brier score: 0.134
Odds Ratio (OR, top 1% vs. Rest): 2.48 [1.63, 3.77]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608
PPM001197 PGS000512
(PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.699 [1.654, 1.746]
β: 0.53 (0.0138)
AUROC: 0.643 [0.637, 0.65] Nagelkerke's Pseudo-R²: 0.0487
Brier score: 0.0807
Odds Ratio (OR, top 1% vs. Rest): 4.02 [3.46, 4.67]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608
PPM001198 PGS000513
(PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_P_5e-08_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.402 [1.32, 1.489]
β: 0.338 (0.0307)
AUROC: 0.595 [0.577, 0.612] Nagelkerke's Pseudo-R²: 0.0259
Brier score: 0.137
Odds Ratio (OR, top 1% vs. Rest): 1.8 [1.12, 2.91]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_P_5e-08_MGI_20200608
PPM001199 PGS000514
(PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_PRS-CS_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.391 [1.309, 1.478]
β: 0.33 (0.031)
AUROC: 0.59 [0.573, 0.607] Nagelkerke's Pseudo-R²: 0.0248
Brier score: 0.137
Odds Ratio (OR, top 1% vs. Rest): 1.79 [1.12, 2.86]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_PRS-CS_MGI_20200608
PPM001200 PGS000515
(PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_PT_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.453 [1.367, 1.544]
β: 0.374 (0.0311)
AUROC: 0.605 [0.588, 0.621] Nagelkerke's Pseudo-R²: 0.0307
Brier score: 0.137
Odds Ratio (OR, top 1% vs. Rest): 2.09 [1.31, 3.32]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_PT_MGI_20200608
PPM001201 PGS000516
(PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_LASSOSUM_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.477 [1.39, 1.57]
β: 0.39 (0.031)
AUROC: 0.609 [0.592, 0.624] Nagelkerke's Pseudo-R²: 0.034
Brier score: 0.137
Odds Ratio (OR, top 1% vs. Rest): 1.94 [1.21, 3.11]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_LASSOSUM_MGI_20200608
PPM001202 PGS000517
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.229 [1.157, 1.305]
β: 0.206 (0.0306)
AUROC: 0.55 [0.533, 0.566] Nagelkerke's Pseudo-R²: 0.0097
Brier score: 0.139
Odds Ratio (OR, top 1% vs. Rest): 1.88 [1.17, 3.03]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_MGI_20200608
PPM001203 PGS000518
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.18 [1.15, 1.21]
β: 0.165 (0.0131)
AUROC: 0.542 [0.534, 0.55] Nagelkerke's Pseudo-R²: 0.00504
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 1.49 [1.2, 1.86]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_UKB_20200608
PPM001204 PGS000519
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PRS-CS_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.151 [1.084, 1.221]
β: 0.14 (0.0305)
AUROC: 0.539 [0.52, 0.556] Nagelkerke's Pseudo-R²: 0.00453
Brier score: 0.139
Odds Ratio (OR, top 1% vs. Rest): 1.51 [0.907, 2.51]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PRS-CS_MGI_20200608
PPM001205 PGS000520
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PRS-CS_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.188 [1.158, 1.22]
β: 0.172 (0.0133)
AUROC: 0.549 [0.542, 0.556] Nagelkerke's Pseudo-R²: 0.00537
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 1.82 [1.48, 2.22]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PRS-CS_UKB_20200608
PPM001206 PGS000521
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PT_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.22 [1.149, 1.295]
β: 0.199 (0.0304)
AUROC: 0.548 [0.53, 0.564] Nagelkerke's Pseudo-R²: 0.00934
Brier score: 0.139
Odds Ratio (OR, top 1% vs. Rest): 1.88 [1.18, 2.99]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PT_MGI_20200608
PPM001207 PGS000522
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PT_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.201 [1.171, 1.233]
β: 0.183 (0.0131)
AUROC: 0.547 [0.54, 0.555] Nagelkerke's Pseudo-R²: 0.00619
Brier score: 0.0825
Odds Ratio (OR, top 1% vs. Rest): 1.73 [1.41, 2.13]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PT_UKB_20200608
PPM001208 PGS000523
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_LASSOSUM_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.225 [1.155, 1.299]
β: 0.203 (0.0301)
AUROC: 0.546 [0.529, 0.562] Nagelkerke's Pseudo-R²: 0.00979
Brier score: 0.139
Odds Ratio (OR, top 1% vs. Rest): 2.11 [1.34, 3.33]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_LASSOSUM_MGI_20200608
PPM001209 PGS000524
(PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_LASSOSUM_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.2 [1.169, 1.231]
β: 0.182 (0.0131)
AUROC: 0.547 [0.54, 0.555] Nagelkerke's Pseudo-R²: 0.0061
Brier score: 0.0825
Odds Ratio (OR, top 1% vs. Rest): 1.72 [1.4, 2.11]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_LASSOSUM_UKB_20200608
PPM001210 PGS000525
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_P_5e-08_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.427 [1.343, 1.516]
β: 0.356 (0.0309)
AUROC: 0.597 [0.58, 0.614] Nagelkerke's Pseudo-R²: 0.0285
Brier score: 0.137
Odds Ratio (OR, top 1% vs. Rest): 2.28 [1.46, 3.56]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_P_5e-08_MGI_20200608
PPM001211 PGS000526
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.424 [1.387, 1.461]
β: 0.353 (0.0132)
AUROC: 0.597 [0.59, 0.604] Nagelkerke's Pseudo-R²: 0.0228
Brier score: 0.0819
Odds Ratio (OR, top 1% vs. Rest): 2.68 [2.25, 3.19]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608
PPM001212 PGS000527
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PRS-CS_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.509 [1.418, 1.605]
β: 0.411 (0.0314)
AUROC: 0.613 [0.595, 0.63] Nagelkerke's Pseudo-R²: 0.0383
Brier score: 0.136
Odds Ratio (OR, top 1% vs. Rest): 3.75 [2.55, 5.51]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PRS-CS_MGI_20200608
PPM001213 PGS000528
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PRS-CS_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.513 [1.474, 1.554]
β: 0.414 (0.0136)
AUROC: 0.614 [0.607, 0.62] Nagelkerke's Pseudo-R²: 0.0303
Brier score: 0.0816
Odds Ratio (OR, top 1% vs. Rest): 2.98 [2.52, 3.52]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PRS-CS_UKB_20200608
PPM001214 PGS000529
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.43 [1.346, 1.52]
β: 0.358 (0.0311)
AUROC: 0.597 [0.58, 0.612] Nagelkerke's Pseudo-R²: 0.0281
Brier score: 0.137
Odds Ratio (OR, top 1% vs. Rest): 2.98 [1.98, 4.47]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_MGI_20200608
PPM001215 PGS000530
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.441 [1.404, 1.479]
β: 0.365 (0.0132)
AUROC: 0.6 [0.593, 0.608] Nagelkerke's Pseudo-R²: 0.0245
Brier score: 0.0818
Odds Ratio (OR, top 1% vs. Rest): 2.92 [2.47, 3.46]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_UKB_20200608
PPM001216 PGS000531
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_LASSOSUM_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.501 [1.411, 1.596]
β: 0.406 (0.0314)
AUROC: 0.61 [0.594, 0.626] Nagelkerke's Pseudo-R²: 0.037
Brier score: 0.136
Odds Ratio (OR, top 1% vs. Rest): 2.29 [1.47, 3.59]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_LASSOSUM_MGI_20200608
PPM001217 PGS000532
(PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_LASSOSUM_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.49 [1.451, 1.529]
β: 0.399 (0.0134)
AUROC: 0.608 [0.601, 0.615] Nagelkerke's Pseudo-R²: 0.0285
Brier score: 0.0816
Odds Ratio (OR, top 1% vs. Rest): 3.0 [2.54, 3.54]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_LASSOSUM_UKB_20200608
PPM001218 PGS000533
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_P_5e-08_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.489 [1.401, 1.583]
β: 0.398 (0.0312)
AUROC: 0.607 [0.591, 0.623] Nagelkerke's Pseudo-R²: 0.0354
Brier score: 0.137
Odds Ratio (OR, top 1% vs. Rest): 2.51 [1.63, 3.86]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_P_5e-08_MGI_20200608
PPM001219 PGS000534
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_P_5e-08_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.443 [1.406, 1.481]
β: 0.367 (0.0132)
AUROC: 0.601 [0.594, 0.608] Nagelkerke's Pseudo-R²: 0.0246
Brier score: 0.0818
Odds Ratio (OR, top 1% vs. Rest): 2.5 [2.09, 2.99]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_P_5e-08_UKB_20200608
PPM001220 PGS000535
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.568 [1.473, 1.668]
β: 0.45 (0.0317)
AUROC: 0.622 [0.605, 0.638] Nagelkerke's Pseudo-R²: 0.0443
Brier score: 0.135
Odds Ratio (OR, top 1% vs. Rest): 3.43 [2.32, 5.05]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_MGI_20200608
PPM001221 PGS000536
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.571 [1.53, 1.614]
β: 0.452 (0.0136)
AUROC: 0.623 [0.615, 0.63] Nagelkerke's Pseudo-R²: 0.036
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 3.54 [3.02, 4.14]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_UKB_20200608
PPM001222 PGS000537
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.498 [1.408, 1.593]
β: 0.404 (0.0314)
AUROC: 0.609 [0.592, 0.626] Nagelkerke's Pseudo-R²: 0.0353
Brier score: 0.136
Odds Ratio (OR, top 1% vs. Rest): 3.44 [2.31, 5.13]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_MGI_20200608
PPM001223 PGS000538
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.448 [1.411, 1.486]
β: 0.37 (0.0132)
AUROC: 0.602 [0.594, 0.609] Nagelkerke's Pseudo-R²: 0.025
Brier score: 0.0818
Odds Ratio (OR, top 1% vs. Rest): 2.78 [2.34, 3.3]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_UKB_20200608
PPM001224 PGS000539
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608)
PSS000549|
European Ancestry|
7,785 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.585 [1.489, 1.687]
β: 0.46 (0.0319)
AUROC: 0.624 [0.607, 0.641] Nagelkerke's Pseudo-R²: 0.0464
Brier score: 0.136
Odds Ratio (OR, top 1% vs. Rest): 2.49 [1.61, 3.84]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608
PPM001225 PGS000540
(PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608)
PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.528 [1.489, 1.569]
β: 0.424 (0.0134)
AUROC: 0.615 [0.607, 0.622] Nagelkerke's Pseudo-R²: 0.0322
Brier score: 0.0814
Odds Ratio (OR, top 1% vs. Rest): 3.55 [3.04, 4.16]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608
PPM002005 PGS000773
(PRS179_BC)
PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
Reported Trait: Breast cancer OR: 1.26 [1.22, 1.3] Age, study, PCs(1-10) Only 163 of the original 179 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies
PPM002006 PGS000773
(PRS179_BC)
PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
Reported Trait: Breast cancer AUROC: 0.568 [0.56, 0.576] Study, PCs(1-10) Only 163 of the original 179 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies
PPM002007 PGS000774
(PRS179_ERpos)
PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
Reported Trait: Estrogen-receptor positive breast cancer OR: 1.33 [1.27, 1.38] Age, study, PCs(1-10) Only 163 of the original 179 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies
PPM002008 PGS000774
(PRS179_ERpos)
PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
Reported Trait: Estrogen-receptor positive breast cancer AUROC: 0.576 [0.566, 0.585] Study, PCs(1-10) Only 163 of the original 179 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies
PPM002009 PGS000775
(PRS179_ERneg)
PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
Reported Trait: Estrogen-receptor negative breast cancer OR: 1.31 [1.24, 1.37] Age, study, PCs(1-10) Only 163 of the original 179 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies
PPM002010 PGS000775
(PRS179_ERneg)
PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
Reported Trait: Estrogen-receptor negative breast cancer AUROC: 0.578 [0.564, 0.591] Study, PCs(1-10) Only 163 of the original 179 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies
PPM002054 PGS000783
(CC_Breast_IV)
PSS001011|
European Ancestry|
216,273 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Reported Trait: Incident breast cancer HR: 1.52 [1.47, 1.56] AUROC: 0.637
C-index: 0.635 (0.004)
: 0.146 Age at assessment, family history of breast cancer, genotyping array, PCs(1-15), parity( ≥1 live birth vs. none), age at menarche, body mass index, menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use, alcool intake, (Body mass index)*(menopausal status) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM002070 PGS000783
(CC_Breast_IV)
PSS001011|
European Ancestry|
216,273 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Reported Trait: Incident breast cancer AUROC: 0.626
C-index: 0.62 (0.005)
: 0.122 Age, genotyping array, PCs(1-15) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM002456 PGS000873
(SNP143)
PSS001111|
Ancestry Not Reported|
2,073 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Breast cancer Odds Ratio (OR, per interquartile range unit change): 2.12 [1.81, 2.49] Age
PPM002458 PGS000873
(SNP143)
PSS001105|
Ancestry Not Reported|
2,021 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Estrogen-receptor positive breast cancer Odds Ratio (OR, per interquartile range unit change): 2.17 [1.83, 2.58] Age
PPM002460 PGS000873
(SNP143)
PSS001108|
Ancestry Not Reported|
1,707 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Estrogen-receptor negative breast cancer Odds Ratio (OR, per interquartile range unit change): 1.86 [1.18, 2.91] Age
PPM002462 PGS000873
(SNP143)
PSS001113|
Ancestry Not Reported|
1,991 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Invasive breast cancer Odds Ratio (OR, per interquartile range unit change): 2.14 [1.79, 2.55] Age
PPM002464 PGS000873
(SNP143)
PSS001112|
Ancestry Not Reported|
1,750 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Breast ductal cancer in situ Odds Ratio (OR, per interquartile range unit change): 2.0 [1.46, 2.75] Age
PPM002466 PGS000873
(SNP143)
PSS001107|
Ancestry Not Reported|
1,956 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Invasive estrogen-receptor positive breast cancer Odds Ratio (OR, per interquartile range unit change): 2.55 [1.86, 2.7] Age
PPM002468 PGS000873
(SNP143)
PSS001106|
Ancestry Not Reported|
1,733 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Estrogen-receptor positive breast ductal cancer in situ Odds Ratio (OR, per interquartile range unit change): 1.84 [1.3, 2.6] Age
PPM002470 PGS000873
(SNP143)
PSS001110|
Ancestry Not Reported|
1,694 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Invasive estrogen-receptor negative breast cancer Odds Ratio (OR, per interquartile range unit change): 1.44 [0.84, 2.47] Age
PPM002471 PGS000873
(SNP143)
PSS001109|
Ancestry Not Reported|
1,681 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Estrogen-receptor negative breast ductal cancer in situ Odds Ratio (OR, per interquartile range unit change): 3.12 [1.41, 6.88] Age
PPM002457 PGS000873
(SNP143)
PSS001111|
Ancestry Not Reported|
2,073 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Breast cancer Odds Ratio (OR, per interquartile range unit change): 2.06 [1.75, 2.42] Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density
PPM002459 PGS000873
(SNP143)
PSS001105|
Ancestry Not Reported|
2,021 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Estrogen-receptor positive breast cancer Odds Ratio (OR, per interquartile range unit change): 2.11 [1.78, 2.51] Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density
PPM002461 PGS000873
(SNP143)
PSS001108|
Ancestry Not Reported|
1,707 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Estrogen-receptor negative breast cancer Odds Ratio (OR, per interquartile range unit change): 1.81 [1.16, 2.84] Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density
PPM002463 PGS000873
(SNP143)
PSS001113|
Ancestry Not Reported|
1,991 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Invasive breast cancer Odds Ratio (OR, per interquartile range unit change): 2.07 [1.74, 2.48] Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density
PPM002465 PGS000873
(SNP143)
PSS001112|
Ancestry Not Reported|
1,750 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Breast ductal cancer in situ Odds Ratio (OR, per interquartile range unit change): 1.93 [1.41, 2.65] Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density
PPM002469 PGS000873
(SNP143)
PSS001106|
Ancestry Not Reported|
1,733 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Estrogen-receptor positive breast ductal cancer in situ Odds Ratio (OR, per interquartile range unit change): 1.77 [1.24, 2.51] Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density
PPM002472 PGS000873
(SNP143)
PSS001109|
Ancestry Not Reported|
1,681 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Estrogen-receptor negative breast ductal cancer in situ Odds Ratio (OR, per interquartile range unit change): 2.99 [1.35, 6.6] Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density
PPM002467 PGS000873
(SNP143)
PSS001107|
Ancestry Not Reported|
1,956 individuals
PGP000216 |
Brentnall AR et al. Int J Cancer (2019)
Reported Trait: Invasive estrogen-receptor positive breast cancer Odds Ratio (OR, per interquartile range unit change): 2.18 [1.81, 2.63] Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density
PPM018697 PGS000873
(SNP143)
PSS011069|
East Asian Ancestry|
495 individuals
PGP000494 |
Ho PJ et al. Elife (2023)
|Ext.
Reported Trait: Breast cancer AUROC: 0.6 [0.58, 0.63] Hazard ratio (HR, high vs low tertile): 2.68 [1.97, 3.66] age at recruitment
PPM009166 PGS001336
(GBE_cancer1002)
PSS007616|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Breast cancer AUROC: 0.79293 [0.76728, 0.81858] : 0.15047
Incremental AUROC (full-covars): 0.01474
PGS R2 (no covariates): 0.00598
PGS AUROC (no covariates): 0.56918 [0.51783, 0.62054]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009167 PGS001336
(GBE_cancer1002)
PSS007617|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Breast cancer AUROC: 0.7602 [0.71475, 0.80565] : 0.14344
Incremental AUROC (full-covars): 0.01509
PGS R2 (no covariates): 0.01507
PGS AUROC (no covariates): 0.59411 [0.51563, 0.67258]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009168 PGS001336
(GBE_cancer1002)
PSS007618|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Breast cancer AUROC: 0.80561 [0.79545, 0.81577] : 0.18447
Incremental AUROC (full-covars): 0.01345
PGS R2 (no covariates): 0.01264
PGS AUROC (no covariates): 0.58544 [0.56669, 0.6042]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009169 PGS001336
(GBE_cancer1002)
PSS007619|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Breast cancer AUROC: 0.83564 [0.81289, 0.85838] : 0.18535
Incremental AUROC (full-covars): 0.00869
PGS R2 (no covariates): 0.00739
PGS AUROC (no covariates): 0.5725 [0.52745, 0.61755]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009170 PGS001336
(GBE_cancer1002)
PSS007620|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Breast cancer AUROC: 0.80961 [0.80348, 0.81573] : 0.1894
Incremental AUROC (full-covars): 0.02139
PGS R2 (no covariates): 0.01602
PGS AUROC (no covariates): 0.59627 [0.58498, 0.60756]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009262 PGS001778
(PRS15_BC)
PSS007670|
European Ancestry|
1,780 individuals
PGP000259 |
Yiangou K et al. Cancers (Basel) (2021)
Reported Trait: Breast cancer OR: 1.66 [1.25, 2.2] AUROC: 0.548 Age
PPM009264 PGS001778
(PRS15_BC)
PSS007670|
European Ancestry|
1,780 individuals
PGP000259 |
Yiangou K et al. Cancers (Basel) (2021)
Reported Trait: Breast cancer OR: 1.57 [1.18, 2.08] AUROC: 0.578 Age, family history
PPM009261 PGS001778
(PRS15_BC)
PSS007670|
European Ancestry|
1,780 individuals
PGP000259 |
Yiangou K et al. Cancers (Basel) (2021)
Reported Trait: Breast cancer OR: 1.66 [1.25, 2.19] AUROC: 0.547 [0.52, 0.57]
PPM009263 PGS001778
(PRS15_BC)
PSS007670|
European Ancestry|
1,780 individuals
PGP000259 |
Yiangou K et al. Cancers (Basel) (2021)
Reported Trait: Breast cancer OR: 1.56 [1.18, 2.08] AUROC: 0.578 Family history
PPM009265 PGS001778
(PRS15_BC)
PSS007670|
European Ancestry|
1,780 individuals
PGP000259 |
Yiangou K et al. Cancers (Basel) (2021)
Reported Trait: Breast cancer AUROC: 0.6975 [0.673, 0.722] Odds Ratio (OR, top 10% vs middle10%): 4.58 [2.88, 7.4] Age at interview, menopausal status, age at menarche, age at first full-term pregnancy(1-4), parous, breast feeding, smoking status, body mass index, height, hormone-replacement therapy ever use, family history
PPM009338 PGS001804
(portability-PLR_174.1)
PSS009274|
European Ancestry|
10,197 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.1101 [0.0908, 0.1292] sex, age, birth date, deprivation index, 16 PCs
PPM009339 PGS001804
(portability-PLR_174.1)
PSS009048|
European Ancestry|
2,440 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.0843 [0.0446, 0.1237] sex, age, birth date, deprivation index, 16 PCs
PPM009340 PGS001804
(portability-PLR_174.1)
PSS008602|
European Ancestry|
3,484 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.1125 [0.0795, 0.1453] sex, age, birth date, deprivation index, 16 PCs
PPM009343 PGS001804
(portability-PLR_174.1)
PSS007944|
East Asian Ancestry|
1,143 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.0983 [0.0401, 0.1559] sex, age, birth date, deprivation index, 16 PCs
PPM009344 PGS001804
(portability-PLR_174.1)
PSS007726|
African Ancestry|
1,482 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.0416 [-0.0097, 0.0927] sex, age, birth date, deprivation index, 16 PCs
PPM009345 PGS001804
(portability-PLR_174.1)
PSS008828|
African Ancestry|
2,035 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.0889 [0.0454, 0.132] sex, age, birth date, deprivation index, 16 PCs
PPM009341 PGS001804
(portability-PLR_174.1)
PSS008380|
Greater Middle Eastern Ancestry|
467 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.0772 [-0.0155, 0.1687] sex, age, birth date, deprivation index, 16 PCs
PPM009342 PGS001804
(portability-PLR_174.1)
PSS008156|
South Asian Ancestry|
2,782 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.0673 [0.0301, 0.1044] sex, age, birth date, deprivation index, 16 PCs
PPM010994 PGS002015
(portability-ldpred2_174.1)
PSS009274|
European Ancestry|
10,197 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.1132 [0.094, 0.1324] sex, age, birth date, deprivation index, 16 PCs
PPM010995 PGS002015
(portability-ldpred2_174.1)
PSS009048|
European Ancestry|
2,440 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.0807 [0.041, 0.1201] sex, age, birth date, deprivation index, 16 PCs
PPM010996 PGS002015
(portability-ldpred2_174.1)
PSS008602|
European Ancestry|
3,484 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.1091 [0.076, 0.1419] sex, age, birth date, deprivation index, 16 PCs
PPM010997 PGS002015
(portability-ldpred2_174.1)
PSS008380|
Greater Middle Eastern Ancestry|
467 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.0976 [0.005, 0.1885] sex, age, birth date, deprivation index, 16 PCs
PPM010998 PGS002015
(portability-ldpred2_174.1)
PSS008156|
South Asian Ancestry|
2,782 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.0798 [0.0426, 0.1167] sex, age, birth date, deprivation index, 16 PCs
PPM010999 PGS002015
(portability-ldpred2_174.1)
PSS007944|
East Asian Ancestry|
1,143 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.1146 [0.0565, 0.1719] sex, age, birth date, deprivation index, 16 PCs
PPM011000 PGS002015
(portability-ldpred2_174.1)
PSS007726|
African Ancestry|
1,482 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.0482 [-0.0031, 0.0992] sex, age, birth date, deprivation index, 16 PCs
PPM011001 PGS002015
(portability-ldpred2_174.1)
PSS008828|
African Ancestry|
2,035 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Breast cancer [female] Partial Correlation (partial-r): 0.0842 [0.0407, 0.1274] sex, age, birth date, deprivation index, 16 PCs
PPM012734 PGS002242
(ldpred_breastcancer)
PSS009523|
European Ancestry|
258,402 individuals
PGP000271 |
Mars N et al. Cell Genom (2022)
Reported Trait: Breast cancer OR: 1.48 [1.45, 1.51] age, 10 PCs (+/- dataset-specific technical covariates)
PPM012738 PGS002242
(ldpred_breastcancer)
PSS009519|
European Ancestry|
110,597 individuals
PGP000271 |
Mars N et al. Cell Genom (2022)
Reported Trait: Breast cancer OR: 1.45 [1.37, 1.53] age, 10 PCs (+/- dataset-specific technical covariates)
PPM012742 PGS002242
(ldpred_breastcancer)
PSS009515|
East Asian Ancestry|
178,726 individuals
PGP000271 |
Mars N et al. Cell Genom (2022)
Reported Trait: Breast cancer OR: 1.25 [1.21, 1.28] age, 10 PCs (+/- dataset-specific technical covariates)
PPM012746 PGS002242
(ldpred_breastcancer)
PSS009527|
European Ancestry|
69,422 individuals
PGP000271 |
Mars N et al. Cell Genom (2022)
Reported Trait: Breast cancer OR: 1.5 [1.43, 1.58] birth year, 10 PCs (+/- dataset-specific technical covariates)
PPM012750 PGS002242
(ldpred_breastcancer)
PSS009535|
European Ancestry|
25,696 individuals
PGP000271 |
Mars N et al. Cell Genom (2022)
Reported Trait: Breast cancer OR: 1.45 [1.38, 1.54] age, 10 PCs (+/- dataset-specific technical covariates)
PPM012754 PGS002242
(ldpred_breastcancer)
PSS009531|
African Ancestry|
1,535 individuals
PGP000271 |
Mars N et al. Cell Genom (2022)
Reported Trait: Breast cancer OR: 0.9 [0.69, 1.17] age, 10 PCs (+/- dataset-specific technical covariates)
PPM012758 PGS002242
(ldpred_breastcancer)
PSS009543|
European Ancestry|
343,676 individuals
PGP000271 |
Mars N et al. Cell Genom (2022)
Reported Trait: Breast cancer OR: 1.5 [1.47, 1.53] age, 10 PCs (+/- dataset-specific technical covariates)
PPM012763 PGS002242
(ldpred_breastcancer)
PSS009539|
African Ancestry|
7,618 individuals
PGP000271 |
Mars N et al. Cell Genom (2022)
Reported Trait: Breast cancer OR: 1.12 [0.93, 1.35] age, 10 PCs (+/- dataset-specific technical covariates)
PPM012768 PGS002242
(ldpred_breastcancer)
PSS009547|
South Asian Ancestry|
7,628 individuals
PGP000271 |
Mars N et al. Cell Genom (2022)
Reported Trait: Breast cancer OR: 1.47 [1.23, 1.75] age, 10 PCs (+/- dataset-specific technical covariates)
PPM013022 PGS002294
(PRS111)
PSS009652|
East Asian Ancestry|
1,104 individuals
PGP000324 |
Yang Y et al. JAMA Netw Open (2022)
Reported Trait: Breast cancer AUROC: 0.648 [0.613, 0.682] Nongenetic risk score (body mass index, waist-to-hip ratio (WHR), benign breast disease, age at menarche, age at first live birth, family history of breast cancer)
PPM013021 PGS002294
(PRS111)
PSS009652|
East Asian Ancestry|
1,104 individuals
PGP000324 |
Yang Y et al. JAMA Netw Open (2022)
Reported Trait: Breast cancer OR: 1.67 [1.46, 1.92] AUROC: 0.639 [0.604, 0.674]
PPM016255 PGS003380
(best_BRCA)
PSS010074|
European Ancestry|
154,361 individuals
PGP000413 |
Namba S et al. Cancer Res (2022)
Reported Trait: breast cancer AUROC: 0.696 : 0.0555 age, top 20 genetic principal components
PPM016280 PGS003396
(PRS-11ASN)
PSS010095|
East Asian Ancestry|
41,031 individuals
PGP000415 |
Jee YH et al. Int J Epidemiol (2022)
Reported Trait: Occurrence of breast cancer HR: 1.35 [1.25, 1.45] AUROC: 0.58 [0.56, 0.61] principal component
PPM016281 PGS003397
(PRS-42ASN)
PSS010095|
East Asian Ancestry|
41,031 individuals
PGP000415 |
Jee YH et al. Int J Epidemiol (2022)
Reported Trait: Occurrence of breast cancer HR: 1.4 [1.3, 1.51] AUROC: 0.6 [0.58, 0.62] principal component
PPM016282 PGS003398
(PRS-136EUR)
PSS010095|
East Asian Ancestry|
41,031 individuals
PGP000415 |
Jee YH et al. Int J Epidemiol (2022)
Reported Trait: Occurrence of breast cancer HR: 1.55 [1.44, 1.66] AUROC: 0.62 [0.6, 0.64] principal component
PPM016283 PGS003399
(PRS-209EUR)
PSS010095|
East Asian Ancestry|
41,031 individuals
PGP000415 |
Jee YH et al. Int J Epidemiol (2022)
Reported Trait: Occurrence of breast cancer HR: 1.54 [1.43, 1.66] AUROC: 0.62 [0.6, 0.64] principal component
PPM018494 PGS003738
(PRS136_BC)
PSS010985|
European Ancestry|
738 individuals
PGP000470 |
Xin J et al. EBioMedicine (2023)
Reported Trait: Breast cancer OR: 1.4 [1.27, 1.54]
PPM018544 PGS003758
(BrCa_PRS_JPHC_JPGWAS)
PSS011015|
East Asian Ancestry|
8,001 individuals
PGP000478 |
Ohbe H et al. Breast Cancer Res Treat (2022)
Reported Trait: Incident breast cancer C-index: 0.598 (0.018) Improvement in C-index from age-only model: 0.058
Hazard ratio (HR, high vs low tertile): 2.47 [1.64, 3.7]
age
PPM018545 PGS003759
(BrCa_PRS_JPHC_EURGWAS)
PSS011015|
East Asian Ancestry|
8,001 individuals
PGP000478 |
Ohbe H et al. Breast Cancer Res Treat (2022)
Reported Trait: Incident breast cancer C-index: 0.586 (0.018) Improvement in C-index from age-only model: 0.046
Hazard ratio (HR, high vs low tertile): 2.25 [1.51, 3.33]
age
PPM019389 PGS003983
(dbslmm.auto.GCST004988.Breast_cancer)
PSS011215|
European Ancestry|
130,758 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.60508
β: 0.47317
AUROC: 0.63 0 beta = log(or)/sd_pgs
PPM019390 PGS003983
(dbslmm.auto.GCST004988.Breast_cancer)
PSS011227|
European Ancestry|
217,530 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.71525
β: 0.53956
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019391 PGS003983
(dbslmm.auto.GCST004988.Breast_cancer)
PSS011238|
South Asian Ancestry|
24,319 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.53934
β: 0.43136
AUROC: 0.62 0 beta = log(or)/sd_pgs
PPM019392 PGS003983
(dbslmm.auto.GCST004988.Breast_cancer)
PSS011254|
European Ancestry|
35,377 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.70143
β: 0.53147
AUROC: 0.64 0 beta = log(or)/sd_pgs
PPM019394 PGS003983
(dbslmm.auto.GCST004988.Breast_cancer)
PSS011268|
European Ancestry|
48,968 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.75801
β: 0.56418
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019393 PGS003983
(dbslmm.auto.GCST004988.Breast_cancer)
PSS011282|
South Asian Ancestry|
4,350 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.467
β: 0.38322
AUROC: 0.6 0 beta = log(or)/sd_pgs
PPM019425 PGS003999
(lassosum.auto.GCST004988.Breast_cancer)
PSS011215|
European Ancestry|
130,758 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.65454
β: 0.50352
AUROC: 0.64 0 beta = log(or)/sd_pgs
PPM019426 PGS003999
(lassosum.auto.GCST004988.Breast_cancer)
PSS011227|
European Ancestry|
217,530 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.7112
β: 0.5372
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019427 PGS003999
(lassosum.auto.GCST004988.Breast_cancer)
PSS011238|
South Asian Ancestry|
24,319 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.60371
β: 0.47232
AUROC: 0.63 0 beta = log(or)/sd_pgs
PPM019428 PGS003999
(lassosum.auto.GCST004988.Breast_cancer)
PSS011254|
European Ancestry|
35,377 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.71179
β: 0.53754
AUROC: 0.64 0 beta = log(or)/sd_pgs
PPM019429 PGS003999
(lassosum.auto.GCST004988.Breast_cancer)
PSS011282|
South Asian Ancestry|
4,350 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.48538
β: 0.39567
AUROC: 0.61 0 beta = log(or)/sd_pgs
PPM019430 PGS003999
(lassosum.auto.GCST004988.Breast_cancer)
PSS011268|
European Ancestry|
48,968 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.75341
β: 0.56157
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019401 PGS004025
(ldpred2.auto.GCST004988.Breast_cancer)
PSS011215|
European Ancestry|
130,758 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.66191
β: 0.50797
AUROC: 0.64 0 beta = log(or)/sd_pgs
PPM019402 PGS004025
(ldpred2.auto.GCST004988.Breast_cancer)
PSS011227|
European Ancestry|
217,530 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.77035
β: 0.57118
AUROC: 0.66 0 beta = log(or)/sd_pgs
PPM019403 PGS004025
(ldpred2.auto.GCST004988.Breast_cancer)
PSS011238|
South Asian Ancestry|
24,319 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.61352
β: 0.47842
AUROC: 0.63 0 beta = log(or)/sd_pgs
PPM019404 PGS004025
(ldpred2.auto.GCST004988.Breast_cancer)
PSS011254|
European Ancestry|
35,377 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.74007
β: 0.55393
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019405 PGS004025
(ldpred2.auto.GCST004988.Breast_cancer)
PSS011282|
South Asian Ancestry|
4,350 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.44836
β: 0.37043
AUROC: 0.6 0 beta = log(or)/sd_pgs
PPM019406 PGS004025
(ldpred2.auto.GCST004988.Breast_cancer)
PSS011268|
European Ancestry|
48,968 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.80647
β: 0.59138
AUROC: 0.66 0 beta = log(or)/sd_pgs
PPM019365 PGS004040
(ldpred2.CV.GCST004988.Breast_cancer)
PSS011215|
European Ancestry|
130,758 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.66024
β: 0.50696
AUROC: 0.64 0 beta = log(or)/sd_pgs
PPM019366 PGS004040
(ldpred2.CV.GCST004988.Breast_cancer)
PSS011227|
European Ancestry|
217,530 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.77072
β: 0.57138
AUROC: 0.66 0 beta = log(or)/sd_pgs
PPM019367 PGS004040
(ldpred2.CV.GCST004988.Breast_cancer)
PSS011238|
South Asian Ancestry|
24,319 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.60503
β: 0.47314
AUROC: 0.63 0 beta = log(or)/sd_pgs
PPM019368 PGS004040
(ldpred2.CV.GCST004988.Breast_cancer)
PSS011254|
European Ancestry|
35,377 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.74575
β: 0.55719
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019369 PGS004040
(ldpred2.CV.GCST004988.Breast_cancer)
PSS011282|
South Asian Ancestry|
4,350 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.46589
β: 0.38246
AUROC: 0.61 0 beta = log(or)/sd_pgs
PPM019370 PGS004040
(ldpred2.CV.GCST004988.Breast_cancer)
PSS011268|
European Ancestry|
48,968 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.80882
β: 0.59268
AUROC: 0.66 0 beta = log(or)/sd_pgs
PPM019413 PGS004053
(megaprs.auto.GCST004988.Breast_cancer)
PSS011215|
European Ancestry|
130,758 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.61464
β: 0.47911
AUROC: 0.63 0 beta = log(or)/sd_pgs
PPM019414 PGS004053
(megaprs.auto.GCST004988.Breast_cancer)
PSS011227|
European Ancestry|
217,530 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.72899
β: 0.54754
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019415 PGS004053
(megaprs.auto.GCST004988.Breast_cancer)
PSS011238|
South Asian Ancestry|
24,319 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.58283
β: 0.45922
AUROC: 0.63 0 beta = log(or)/sd_pgs
PPM019416 PGS004053
(megaprs.auto.GCST004988.Breast_cancer)
PSS011254|
European Ancestry|
35,377 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.7155
β: 0.5397
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019417 PGS004053
(megaprs.auto.GCST004988.Breast_cancer)
PSS011282|
South Asian Ancestry|
4,350 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.42423
β: 0.35363
AUROC: 0.6 0 beta = log(or)/sd_pgs
PPM019418 PGS004053
(megaprs.auto.GCST004988.Breast_cancer)
PSS011268|
European Ancestry|
48,968 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.75979
β: 0.5652
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019407 PGS004069
(megaprs.CV.GCST004988.Breast_cancer)
PSS011215|
European Ancestry|
130,758 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.64103
β: 0.49532
AUROC: 0.64 0 beta = log(or)/sd_pgs
PPM019408 PGS004069
(megaprs.CV.GCST004988.Breast_cancer)
PSS011227|
European Ancestry|
217,530 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.7432
β: 0.55573
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019409 PGS004069
(megaprs.CV.GCST004988.Breast_cancer)
PSS011238|
South Asian Ancestry|
24,319 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.56536
β: 0.44811
AUROC: 0.62 0 beta = log(or)/sd_pgs
PPM019410 PGS004069
(megaprs.CV.GCST004988.Breast_cancer)
PSS011254|
European Ancestry|
35,377 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.72445
β: 0.54491
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019411 PGS004069
(megaprs.CV.GCST004988.Breast_cancer)
PSS011282|
South Asian Ancestry|
4,350 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.51041
β: 0.41238
AUROC: 0.61 0 beta = log(or)/sd_pgs
PPM019412 PGS004069
(megaprs.CV.GCST004988.Breast_cancer)
PSS011268|
European Ancestry|
48,968 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.78417
β: 0.57895
AUROC: 0.66 0 beta = log(or)/sd_pgs
PPM019419 PGS004083
(prscs.auto.GCST004988.Breast_cancer)
PSS011215|
European Ancestry|
130,758 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.62802
β: 0.48736
AUROC: 0.64 0 beta = log(or)/sd_pgs
PPM019420 PGS004083
(prscs.auto.GCST004988.Breast_cancer)
PSS011227|
European Ancestry|
217,530 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.73797
β: 0.55272
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019421 PGS004083
(prscs.auto.GCST004988.Breast_cancer)
PSS011238|
South Asian Ancestry|
24,319 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.57454
β: 0.45396
AUROC: 0.63 0 beta = log(or)/sd_pgs
PPM019422 PGS004083
(prscs.auto.GCST004988.Breast_cancer)
PSS011254|
European Ancestry|
35,377 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.72094
β: 0.54287
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019423 PGS004083
(prscs.auto.GCST004988.Breast_cancer)
PSS011282|
South Asian Ancestry|
4,350 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.51133
β: 0.41299
AUROC: 0.61 0 beta = log(or)/sd_pgs
PPM019424 PGS004083
(prscs.auto.GCST004988.Breast_cancer)
PSS011268|
European Ancestry|
48,968 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.77492
β: 0.57375
AUROC: 0.66 0 beta = log(or)/sd_pgs
PPM019371 PGS004107
(pt_clump.auto.GCST004988.Breast_cancer)
PSS011215|
European Ancestry|
130,758 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.50345
β: 0.40776
AUROC: 0.61 0 beta = log(or)/sd_pgs
PPM019372 PGS004107
(pt_clump.auto.GCST004988.Breast_cancer)
PSS011227|
European Ancestry|
217,530 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.5159
β: 0.41601
AUROC: 0.62 0 beta = log(or)/sd_pgs
PPM019373 PGS004107
(pt_clump.auto.GCST004988.Breast_cancer)
PSS011238|
South Asian Ancestry|
24,319 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.41368
β: 0.34619
AUROC: 0.6 0 beta = log(or)/sd_pgs
PPM019374 PGS004107
(pt_clump.auto.GCST004988.Breast_cancer)
PSS011254|
European Ancestry|
35,377 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.51726
β: 0.4169
AUROC: 0.61 0 beta = log(or)/sd_pgs
PPM019375 PGS004107
(pt_clump.auto.GCST004988.Breast_cancer)
PSS011282|
South Asian Ancestry|
4,350 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.36644
β: 0.31221
AUROC: 0.59 0 beta = log(or)/sd_pgs
PPM019376 PGS004107
(pt_clump.auto.GCST004988.Breast_cancer)
PSS011268|
European Ancestry|
48,968 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.52553
β: 0.42234
AUROC: 0.62 0 beta = log(or)/sd_pgs
PPM019377 PGS004123
(pt_clump_nested.CV.GCST004988.Breast_cancer)
PSS011215|
European Ancestry|
130,758 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.51371
β: 0.41457
AUROC: 0.62 0 beta = log(or)/sd_pgs
PPM019378 PGS004123
(pt_clump_nested.CV.GCST004988.Breast_cancer)
PSS011227|
European Ancestry|
217,530 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.57309
β: 0.45304
AUROC: 0.63 0 beta = log(or)/sd_pgs
PPM019379 PGS004123
(pt_clump_nested.CV.GCST004988.Breast_cancer)
PSS011238|
South Asian Ancestry|
24,319 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.48885
β: 0.39801
AUROC: 0.61 0 beta = log(or)/sd_pgs
PPM019380 PGS004123
(pt_clump_nested.CV.GCST004988.Breast_cancer)
PSS011254|
European Ancestry|
35,377 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.54351
β: 0.43406
AUROC: 0.62 0 beta = log(or)/sd_pgs
PPM019381 PGS004123
(pt_clump_nested.CV.GCST004988.Breast_cancer)
PSS011282|
South Asian Ancestry|
4,350 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.35605
β: 0.30458
AUROC: 0.59 0 beta = log(or)/sd_pgs
PPM019382 PGS004123
(pt_clump_nested.CV.GCST004988.Breast_cancer)
PSS011268|
European Ancestry|
48,968 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.58738
β: 0.46208
AUROC: 0.63 0 beta = log(or)/sd_pgs
PPM019395 PGS004137
(sbayesr.auto.GCST004988.Breast_cancer)
PSS011215|
European Ancestry|
130,758 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.59437
β: 0.46648
AUROC: 0.63 0 beta = log(or)/sd_pgs
PPM019396 PGS004137
(sbayesr.auto.GCST004988.Breast_cancer)
PSS011227|
European Ancestry|
217,530 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.66993
β: 0.51278
AUROC: 0.64 0 beta = log(or)/sd_pgs
PPM019397 PGS004137
(sbayesr.auto.GCST004988.Breast_cancer)
PSS011238|
South Asian Ancestry|
24,319 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.51618
β: 0.41619
AUROC: 0.61 0 beta = log(or)/sd_pgs
PPM019398 PGS004137
(sbayesr.auto.GCST004988.Breast_cancer)
PSS011254|
European Ancestry|
35,377 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.73541
β: 0.55124
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019399 PGS004137
(sbayesr.auto.GCST004988.Breast_cancer)
PSS011282|
South Asian Ancestry|
4,350 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.41849
β: 0.34959
AUROC: 0.6 0 beta = log(or)/sd_pgs
PPM019400 PGS004137
(sbayesr.auto.GCST004988.Breast_cancer)
PSS011268|
European Ancestry|
48,968 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.75895
β: 0.56472
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019383 PGS004153
(UKBB_EnsPGS.GCST004988.Breast_cancer)
PSS011215|
European Ancestry|
130,758 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.68728
β: 0.52312
AUROC: 0.64 0 beta = log(or)/sd_pgs
PPM019384 PGS004153
(UKBB_EnsPGS.GCST004988.Breast_cancer)
PSS011227|
European Ancestry|
217,530 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.79574
β: 0.58542
AUROC: 0.66 0 beta = log(or)/sd_pgs
PPM019385 PGS004153
(UKBB_EnsPGS.GCST004988.Breast_cancer)
PSS011238|
South Asian Ancestry|
24,319 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.65971
β: 0.50664
AUROC: 0.64 0 beta = log(or)/sd_pgs
PPM019386 PGS004153
(UKBB_EnsPGS.GCST004988.Breast_cancer)
PSS011254|
European Ancestry|
35,377 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.77954
β: 0.57636
AUROC: 0.65 0 beta = log(or)/sd_pgs
PPM019387 PGS004153
(UKBB_EnsPGS.GCST004988.Breast_cancer)
PSS011282|
South Asian Ancestry|
4,350 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.54652
β: 0.43601
AUROC: 0.62 0 beta = log(or)/sd_pgs
PPM019388 PGS004153
(UKBB_EnsPGS.GCST004988.Breast_cancer)
PSS011268|
European Ancestry|
48,968 individuals
PGP000517 |
Monti M R et al. medRxiv (2023)
|Pre
Reported Trait: Breast cancer OR: 1.82572
β: 0.60197
AUROC: 0.66 0 beta = log(or)/sd_pgs
PPM020099 PGS004166
(bc_1)
PSS011296|
European Ancestry|
45,334 individuals
PGP000520 |
Raben TG et al. Sci Rep (2023)
Reported Trait: Breast cancer AUROC: 0.64831 year of birth
PPM020100 PGS004167
(bc_2)
PSS011296|
European Ancestry|
45,334 individuals
PGP000520 |
Raben TG et al. Sci Rep (2023)
Reported Trait: Breast cancer AUROC: 0.64213 year of birth
PPM020101 PGS004168
(bc_3)
PSS011296|
European Ancestry|
45,334 individuals
PGP000520 |
Raben TG et al. Sci Rep (2023)
Reported Trait: Breast cancer AUROC: 0.64699 year of birth
PPM020102 PGS004169
(bc_4)
PSS011296|
European Ancestry|
45,334 individuals
PGP000520 |
Raben TG et al. Sci Rep (2023)
Reported Trait: Breast cancer AUROC: 0.64504 year of birth
PPM020103 PGS004170
(bc_5)
PSS011296|
European Ancestry|
45,334 individuals
PGP000520 |
Raben TG et al. Sci Rep (2023)
Reported Trait: Breast cancer AUROC: 0.64455 year of birth
PPM020299 PGS004242
(PRS306_breast)
PSS011328|
European Ancestry|
133,830 individuals
PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
Reported Trait: Breast cancer HR: 1.58 [1.53, 1.64] first 10 genetic principal components
PPM020556 PGS004441
(disease.breast_cancer.score)
PSS011364|
European Ancestry|
56,192 individuals
PGP000561 |
Jung H et al. Commun Biol (2024)
Reported Trait: Breast cancer OR: 1.22014
PPM020626 PGS004511
(meta.breast_cancer.score)
PSS011364|
European Ancestry|
56,192 individuals
PGP000561 |
Jung H et al. Commun Biol (2024)
Reported Trait: Breast cancer OR: 1.22647
PPM020694 PGS004579
(BRCA_PRSCS)
PSS011365|
European Ancestry|
190,879 individuals
PGP000562 |
Youssef Y O et al. Lab Invest (2024)
Reported Trait: Breast cancer OR: 1.76 [1.73, 1.79]
PPM020786 PGS004611
(RORP_PRS)
PSS011411|
Multi-ancestry (including European)|
10,196 individuals
PGP000590 |
Shieh Y et al. NPJ Precis Oncol (2023)
Reported Trait: Breast cancer-specific survival HR: 1.13 [1.06, 1.21] 10 PCs
PPM020873 PGS004688
(breast_cancer)
PSS011432|
European Ancestry|
21,249 individuals
PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
Reported Trait: Breast cancer AUROC: 0.665

Evaluated Samples

PGS Sample Set ID
(PSS)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000001 All breast cancer
[
  • 33,673 cases
  • , 33,381 controls
]
European 33 cohorts
  • ABCFS
  • ,ABCS
  • ,BBCC
  • ,BIGGS
  • ,BSUCH
  • ,CECILE
  • ,CGPS
  • ,CTS
  • ,DEMOKRITOS
  • ,ESTHER
  • ,GENICA
  • ,HMBCS
  • ,KBCP
  • ,LMBC
  • ,MARIE
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MTLGEBCS
  • ,NBHS
  • ,NorBCS
  • ,OBCS
  • ,ORIGO
  • ,OSU
  • ,PBCS
  • ,RPCI
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UKBGS
  • ,pKARMA
iCOGS
PSS000002 ER-negative breast cancer
[
  • 5,738 cases
  • , 32,984 controls
]
European 33 cohorts
  • ABCFS
  • ,ABCS
  • ,BBCC
  • ,BIGGS
  • ,BSUCH
  • ,CECILE
  • ,CGPS
  • ,CTS
  • ,DEMOKRITOS
  • ,ESTHER
  • ,GENICA
  • ,HMBCS
  • ,KBCP
  • ,LMBC
  • ,MARIE
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MTLGEBCS
  • ,NBHS
  • ,NorBCS
  • ,OBCS
  • ,ORIGO
  • ,OSU
  • ,PBCS
  • ,RPCI
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UKBGS
  • ,pKARMA
iCOGS
PSS000003 ER-positive breast cancer
[
  • 21,365 cases
  • , 32,558 controls
]
European 33 cohorts
  • ABCFS
  • ,ABCS
  • ,BBCC
  • ,BIGGS
  • ,BSUCH
  • ,CECILE
  • ,CGPS
  • ,CTS
  • ,DEMOKRITOS
  • ,ESTHER
  • ,GENICA
  • ,HMBCS
  • ,KBCP
  • ,LMBC
  • ,MARIE
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MTLGEBCS
  • ,NBHS
  • ,NorBCS
  • ,OBCS
  • ,ORIGO
  • ,OSU
  • ,PBCS
  • ,RPCI
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UKBGS
  • ,pKARMA
iCOGS
PSS011432
[
  • 817 cases
  • , 20,432 controls
]
European UKB
PSS008156 2,782 individuals South Asian India (South Asia) UKB
PSS000004 Invasive breast cancer-affected
[
  • 11,428 cases
  • , 18,323 controls
]
,
0.0 % Male samples
European 10 cohorts
  • AHS
  • ,BGS
  • ,EPIC
  • ,FHRISK
  • ,KARMA
  • ,NHS
  • ,NHS2
  • ,PLCO
  • ,PROCAS
  • ,SISTER
Prospective Test Set
PSS000005 ER-positive breast cancer cases
[
  • 7,992 cases
  • , 3,436 controls
]
,
0.0 % Male samples
European 10 cohorts
  • AHS
  • ,BGS
  • ,EPIC
  • ,FHRISK
  • ,KARMA
  • ,NHS
  • ,NHS2
  • ,PLCO
  • ,PROCAS
  • ,SISTER
Prospective Test Set
PSS000006 ER-negative breast cancer cases
[
  • 1,259 cases
  • , 10,169 controls
]
,
0.0 % Male samples
European 10 cohorts
  • AHS
  • ,BGS
  • ,EPIC
  • ,FHRISK
  • ,KARMA
  • ,NHS
  • ,NHS2
  • ,PLCO
  • ,PROCAS
  • ,SISTER
Prospective Test Set
PSS000007 Incident registry-confirmed invasive breast cancers developed
[
  • 3,215 cases
  • , 186,825 controls
]
,
0.0 % Male samples
European UKB Prospective Test Set (UKB)
PSS009592
[
  • 989 cases
  • , 4,034 controls
]
,
0.0 % Male samples
Not reported TCGA
PSS000014 Breast cancer ascertainment was based on self-report in an interview with a trained nurse, ICD-9 codes (174 or 174.9) or ICD-10 codes (C50.X) in hospitalization records, or a breast cancer diagnosis reported to the national registry before the date of enrollment.
[
  • 6,586 cases
  • , 151,309 controls
]
,
0.0 % Male samples
European UKB UKB Phase 2
PSS011215
[
  • 2,685 cases
  • , 128,073 controls
]
,
0.0 % Male samples
European EB
PSS011069 495 individuals,
0.0 % Male samples
Median = 53.0 years
IQR = [48.0, 59.0] years
East Asian
(Chinese)
SCHS
PSS011227 C3_BREAST, ICD10: C0, ICD9: 174
[
  • 16,076 cases
  • , 201,454 controls
]
,
0.0 % Male samples
European FinnGen
PSS000995 Cases are women with breast cancer. Of the 4414 breast cancer cases, 2470 were ER-positive and 1372 were ER-negative.
[
  • 4,414 cases
  • , 5,128 controls
]
,
0.0 % Male samples
African American or Afro-Caribbean 10 cohorts
  • BWHS
  • ,CARE
  • ,CBCS
  • ,MEC
  • ,NBHS
  • ,NC-BCFR
  • ,PLCO
  • ,SFBCS
  • ,WCHS
  • ,WFBC
All cohorts part of African American Breast Cancer (AABC) consortium and/or The African American Breast Cancer Epidemiology and Risk (AMBER)consortium.
PSS000995 Cases are women with breast cancer. Of the 3928 breast cancer cases, 1533 were ER-positive and 987 were ER-negative.
[
  • 3,928 cases
  • , 3,435 controls
]
,
0.0 % Male samples
Mean = 47.71 years African American or Afro-Caribbean, Sub-Saharan African, African unspecified 15 cohorts
  • 2SISTER
  • ,BBCS
  • ,BNCS
  • ,CCPS
  • ,MEC
  • ,NBHS
  • ,NC-BCFR
  • ,NCBCS
  • ,NigBCS
  • ,PLCO
  • ,RVGBC
  • ,SCCS
  • ,SISTER
  • ,USRT
  • ,WAABCS
All cohorts part of The GAME-ON OncoArray Consortium or The GWAS of Breast Cancer in the African Diaspora Consortium (ROOT)
PSS000995 Cases are women with breast cancer. Of the 899 breast cancer cases, 296 were ER-positive and 277 were ER-negative.
[
  • 899 cases
  • , 1,630 controls
]
,
0.0 % Male samples
Sub-Saharan African GBHS
PSS011238
[
  • 197 cases
  • , 24,122 controls
]
,
0.0 % Male samples
South Asian G&H
PSS009609
[
  • 891 cases
  • , 54,058 controls
]
,
0.0 % Male samples
Range = [0.0, 50.0] years European NHS2, UKB GS
PSS009610
[
  • 5,920 cases
  • , 232,743 controls
]
,
0.0 % Male samples
Range = [50.0, 100.0] years European 9 cohorts
  • CPSII
  • ,EPIC
  • ,KARMA
  • ,MMHS
  • ,NHS
  • ,NHS2
  • ,PLCO
  • ,UKB
  • ,WGHS
GS
PSS009611 302,425 individuals,
0.0 % Male samples
Range = [50.0, 70.0] years European MCCS
PSS009612 840,867 individuals,
0.0 % Male samples
Range = [50.0, 70.0] years European EPIC
PSS009613 408,679 individuals,
0.0 % Male samples
Range = [50.0, 70.0] years European EPIC
PSS009614 188,453 individuals,
0.0 % Male samples
Range = [50.0, 70.0] years European KARMA
PSS009615 1,401,091 individuals,
0.0 % Male samples
Range = [50.0, 70.0] years European EPIC, PROCAS, UKB
PSS009616 5,328,392 individuals,
0.0 % Male samples
Range = [50.0, 70.0] years European 7 cohorts
  • CPSII
  • ,MMHS
  • ,NHS
  • ,NHS2
  • ,PLCO
  • ,SISTER
  • ,WGHS
GS
PSS007726 1,482 individuals African American or Afro-Caribbean Carribean UKB
PSS011254
[
  • 1,729 cases
  • , 33,648 controls
]
,
0.0 % Male samples
European HUNT
PSS000443 National registries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2018, whichever came first. Disease endpoints are defined in Table S9.
[
  • 4,960 cases
  • , 71,213 controls
]
,
0.0 % Male samples
European
(Finnish)
FinnGen
PSS000444 National registries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2018, whichever came first. Disease endpoints are defined in Table S9.
[
  • 742 cases
  • , 37,099 controls
]
European
(Finnish)
FinnGen
PSS009274 10,197 individuals European UK (+ Ireland) UKB
PSS011268
[
  • 3,120 cases
  • , 45,848 controls
]
,
0.0 % Male samples
European UKB
PSS000450 Breast cancer cases were identified through the Finnish Cancer Registry with diagnosis C50 (International Classification of Diseases for Oncology, 3rd Edition; ICD-O-3), from the drug reimbursement registry by selecting individuals with a reimbursement code for breast cancer, and from the death registry with ICD-10 C50.
[
  • 8,401 cases
  • , 114,577 controls
]
,
0.0 % Male samples
Mean Age (At The End Of Follow-Up) = 58.5 years
IQR = [45.1, 72.2] years
European
(Finnish)
FinnGen
PSS009919 2,559 individuals,
0.0 % Male samples
Mean = 54.0 years
Sd = 8.4 years
Not reported NR AMDTSS
PSS011282
[
  • 196 cases
  • , 4,154 controls
]
,
0.0 % Male samples
South Asian UKB
PSS000038 Cases were ascertained by linkage to the California Cancer Registry and defined as pathologically-confirmed diagnoses of invasive breast cancers with positive/elevated ER expression on immunohistochemical staining. ER-negative cases and those with unavailable ER status were excluded. Excluded women self-identified as premenopausal, perimenopausal, or postmenopausal as a direct result of surgery or medical treatments, such as chemotherapy. Women on hormonal therapy or selective estrogen receptor modulators at the time of blood draw were also excluded.
[
  • 51 cases
  • , 51 controls
]
,
0.0 % Male samples
East Asian CPMCBHC Nested case-control study from the CPMC Breast Health Cohort.
PSS000039 Cases were ascertained by linkage to the California Cancer Registry and defined as pathologically-confirmed diagnoses of invasive breast cancers with positive/elevated ER expression on immunohistochemical staining. ER-negative cases and those with unavailable ER status were excluded. Excluded women self-identified as premenopausal, perimenopausal, or postmenopausal as a direct result of surgery or medical treatments, such as chemotherapy. Women on hormonal therapy or selective estrogen receptor modulators at the time of blood draw were also excluded.
[
  • 387 cases
  • , 387 controls
]
,
0.0 % Male samples
European CPMCBHC Nested case-control study from the CPMC Breast Health Cohort.
PSS000040 Cases were ascertained by linkage to the California Cancer Registry and defined as pathologically-confirmed diagnoses of invasive breast cancers with positive/elevated ER expression on immunohistochemical staining. ER-negative cases and those with unavailable ER status were excluded. Excluded women self-identified as premenopausal, perimenopausal, or postmenopausal as a direct result of surgery or medical treatments, such as chemotherapy. Women on hormonal therapy or selective estrogen receptor modulators at the time of blood draw were also excluded.
[
  • 495 cases
  • , 486 controls
]
,
0.0 % Male samples
East Asian, European, Hispanic or Latin American CPMCBHC Nested case-control study from the CPMC Breast Health Cohort.
PSS009925 295 individuals,
0.0 % Male samples
Not reported IARC
PSS011296 22,667 sibling pairs 45,334 individuals European UKB
PSS000218 Phenotypic information was self-reported by the individual through an online, interactive health history tool
[
  • 828 cases
  • , 8,701 controls
]
,
0.0 % Male samples
European CG Samples are individuals whose healthcare provider had ordered a Color Genomics multi-gene panel test
PSS008828 2,035 individuals African unspecified Nigeria (West Africa) UKB
PSS000480 Women (European Ancestry) diagnosed with unilateral breast cancer
[
  • 12,133 cases
  • , 13,398 controls
]
,
0.0 % Male samples
Asian unspecified 8 cohorts
  • CBCS
  • ,HERPACC
  • ,HKBCS
  • ,MYBRCA
  • ,NC-BCFR
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
PSS000481 Women (Asian Ancestry) diagnosed with unilateral breast cancer or CBC. CBC was defined as breast cancer (in situ or invasive) in the contralateral breast irrespective of the time since the first breast cancer.
[
  • 340 cases
  • , 12,133 controls
]
,
0.0 % Male samples
Asian unspecified 8 cohorts
  • CBCS
  • ,HERPACC
  • ,HKBCS
  • ,MYBRCA
  • ,NC-BCFR
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
PSS000482 Women (European Ancestry) diagnosed with unilateral breast cancer or CBC. CBC was defined as breast cancer (in situ or invasive) in the contralateral breast irrespective of the time since the first breast cancer.
[
  • 3,607 cases
  • , 81,000 controls
]
,
0.0 % Male samples
European 63 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,BBCC
  • ,BBCS
  • ,BCEES
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CBCS
  • ,CCGP
  • ,CGPS
  • ,CNIO-BCS
  • ,DIETCOMPLYF
  • ,FHRISK
  • ,GC-HBOC
  • ,GENICA
  • ,GESBC
  • ,GLACIER
  • ,HABCS
  • ,HCSC
  • ,HEBCS
  • ,HMBCS
  • ,HUBCS
  • ,ICICLE
  • ,KARBAC
  • ,KARMA
  • ,KBCP
  • ,KCONFAB/AOCS
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MISS
  • ,MMHS
  • ,NBCS
  • ,NC-BCFR
  • ,NCBRCS
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PREFACE
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SUCCESSB
  • ,SUCCESSC
  • ,SZBCS
  • ,TNBCC
  • ,UCIBCS
  • ,pKARMA
PSS000483 Women (European Ancestry) diagnosed with unilateral breast cancer
[
  • 81,000 cases
  • , 62,830 controls
]
,
0.0 % Male samples
European 63 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,BBCC
  • ,BBCS
  • ,BCEES
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CBCS
  • ,CCGP
  • ,CGPS
  • ,CNIO-BCS
  • ,DIETCOMPLYF
  • ,FHRISK
  • ,GC-HBOC
  • ,GENICA
  • ,GESBC
  • ,GLACIER
  • ,HABCS
  • ,HCSC
  • ,HEBCS
  • ,HMBCS
  • ,HUBCS
  • ,ICICLE
  • ,KARBAC
  • ,KARMA
  • ,KBCP
  • ,KCONFAB/AOCS
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MISS
  • ,MMHS
  • ,NC-BCFR
  • ,NCBCS
  • ,NorBCS
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PREFACE
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SUCCESSB
  • ,SUCCESSC
  • ,SZBCS
  • ,TNBCC
  • ,UCIBCS
  • ,pKARMA
PSS000484 Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. Median = 8.4 years
[
  • 1,027 cases
  • , 55,041 controls
]
,
0.0 % Male samples
Median (Age At Diagnosis) = 56.0 years European 42 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
  • ,kConFab
  • ,pKARMA
PSS000485 Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. Median = 8.4 years
[
  • 275 cases
  • , 55,793 controls
]
,
0.0 % Male samples
Median (Age At Diagnosis) = 56.0 years European 42 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
  • ,kConFab
  • ,pKARMA
PSS000486 Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. Median = 8.4 years
[
  • 923 cases
  • , 55,145 controls
]
,
0.0 % Male samples
Median (Age At Diagnosis) = 56.0 years European 42 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
  • ,kConFab
  • ,pKARMA
PSS000854 Data and diagnoses on site-specific incident cancers were provided by the National Health Service Information Centre for participants from England and Wales (follow-up through March 31, 2016) and by the NHS Central Register Scotland for participants from Scotland (follow-up through October 31, 2015). Cancers were coded by the International Classification of Diseases, Ninth Revision (ICD-9) or the International Classification of Diseases, Tenth Revision (ICD-10). Breast cancer=(ICD-9 = 174 or ICD-10 = C50). Median = 5.8 years
[
  • 4,340 cases
  • , 396,472 controls
]
,
46.5 % Male samples
European UKB
PSS009652
[
  • 368 cases
  • , 736 controls
]
,
0.0 % Male samples
East Asian
(Chinese)
NR
PSS010074 C50
[
  • 11,469 cases
  • , 142,892 controls
]
European
(British)
UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS000491
[
  • 15,755 cases
  • , 16,483 controls
]
,
0.0 % Male samples
Asian unspecified 10 cohorts
  • ACP
  • ,HERPACC
  • ,HKBCS
  • ,KOHBRA
  • ,MYBRCA
  • ,NagBCS
  • ,SBCGS
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
PSS000492
[
  • 10,477 cases
  • , 16,483 controls
]
,
0.0 % Male samples
Asian unspecified 10 cohorts
  • ACP
  • ,HERPACC
  • ,HKBCS
  • ,KOHBRA
  • ,MYBRCA
  • ,NagBCS
  • ,SBCGS
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
PSS000493
[
  • 4,764 cases
  • , 16,483 controls
]
,
0.0 % Male samples
Asian unspecified 10 cohorts
  • ACP
  • ,HERPACC
  • ,HKBCS
  • ,KOHBRA
  • ,MYBRCA
  • ,NagBCS
  • ,SBCGS
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
PSS000494
[
  • 5,236 cases
  • , 5,156 controls
]
,
0.0 % Male samples
East Asian
(Chinese)
MYBRCA, SGBCC
PSS000494
[
  • 1,084 cases
  • , 1,332 controls
]
,
0.0 % Male samples
South East Asian
(Malay)
MYBRCA, SGBCC
PSS000494
[
  • 580 cases
  • , 1,018 controls
]
,
0.0 % Male samples
South Asian
(Indian)
MYBRCA, SGBCC
PSS000495
[
  • 1,365 cases
  • , 5,156 controls
]
,
0.0 % Male samples
East Asian
(Chinese)
MYBRCA, SGBCC
PSS000495
[
  • 336 cases
  • , 1,332 controls
]
,
0.0 % Male samples
South East Asian
(Malay)
MYBRCA, SGBCC
PSS000495
[
  • 184 cases
  • , 1,018 controls
]
,
0.0 % Male samples
South Asian
(Indian)
MYBRCA, SGBCC
PSS000496
[
  • 3,627 cases
  • , 5,156 controls
]
,
0.0 % Male samples
East Asian
(Chinese)
MYBRCA, SGBCC
PSS000496
[
  • 715 cases
  • , 1,332 controls
]
,
0.0 % Male samples
South East Asian
(Malay)
MYBRCA, SGBCC
PSS000496
[
  • 374 cases
  • , 1,018 controls
]
,
0.0 % Male samples
South Asian
(Indian)
MYBRCA, SGBCC
PSS000497
[
  • 1,507 cases
  • , 1,212 controls
]
,
0.0 % Male samples
Asian unspecified CanBCS, LAABC, NC-BCFR
PSS000498
[
  • 280 cases
  • , 1,212 controls
]
Asian unspecified CanBCS, LAABC, NC-BCFR
PSS001011 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases.
[
  • 4,760 cases
  • , 211,513 controls
]
,
0.0 % Male samples
European UKB
PSS000500
[
  • 413 cases
  • , 9,842 controls
]
,
0.0 % Male samples
East Asian
(Chinese)
SCHS
PSS000499
[
  • 1,022 cases
  • , 1,212 controls
]
Asian unspecified CanBCS, LAABC, NC-BCFR
PSS010095 41,031 individuals,
0.0 % Male samples
East Asian
(Korean)
KCPS KPCS-II
PSS011321 10,717 individuals,
0.0 % Male samples
African American or Afro-Caribbean
(non-Hispanic African)
MVP Full combined ancestry cohort: median age = 49 years, median follow-up time = 3.9 years
PSS000070 BRCA1 mutation carriers were followed until breast or ovarian cancer diagnosis, bilateral prophylactic mastectomy, or age at last observation whichever occurred first.
[
  • 7,797 cases
  • , 7,455 controls
]
,
0.0 % Male samples
European Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry CIMBA Median censoring age (cases) = 40
PSS000071 BRCA2 mutation carriers were followed until breast or ovarian cancer diagnosis, bilateral prophylactic mastectomy, or age at last observation whichever occurred first.
[
  • 4,330 cases
  • , 3,881 controls
]
,
0.0 % Male samples
European Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry CIMBA Median censoring age (cases) = 43
PSS011322 19,939 individuals,
0.0 % Male samples
European MVP Full combined ancestry cohort: median age = 49 years, median follow-up time = 3.9 years
PSS008380 467 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS000549 PheCode:174.1; ICD9CM:174.0, 174.1, 174.2, 174.3, 174.4, 174.5, 174.6, 174.8, 174.9, 233.0, V10.3; ICD10CM:C50, C50.0, C50.01, C50.011, C50.012, C50.019, C50.02, C50.021, C50.022, C50.029, C50.1, C50.11, C50.111, C50.112, C50.119, C50.12, C50.121, C50.122, C50.129, C50.2, C50.21, C50.211, C50.212, C50.219, C50.22, C50.221, C50.222, C50.229, C50.3, C50.31, C50.311, C50.312, C50.319, C50.32, C50.321, C50.322, C50.329, C50.4, C50.41, C50.411, C50.412, C50.419, C50.42, C50.421, C50.422, C50.429, C50.5, C50.51, C50.511, C50.512, C50.519, C50.52, C50.521, C50.522, C50.529, C50.6, C50.61, C50.611, C50.612, C50.619, C50.62, C50.621, C50.622, C50.629, C50.8, C50.81, C50.811, C50.812, C50.819, C50.82, C50.821, C50.822, C50.829, C50.9, C50.91, C50.911, C50.912, C50.919, C50.92, C50.921, C50.922, C50.929, D05, D05.0, D05.00, D05.01, D05.02, D05.1, D05.10, D05.11, D05.12, D05.8, D05.80, D05.81, D05.82, D05.9, D05.90, D05.91, D05.92
[
  • 1,341 cases
  • , 6,444 controls
]
European MGI
PSS000074 Breast and prostate cancer cases were defined on the basis of age at diagnosis, whichever occurred first. If breast and prostate cancer occurred at the same time, individuals were treated as patients with breast cancer.
[
  • 277 cases
  • , 1,313 controls
]
,
100.0 % Male samples
European Self-reported European ancestry 37 cohorts
  • BCFR
  • ,BFBOCC
  • ,BRICOH
  • ,CBCS
  • ,CIMBA
  • ,CNIO
  • ,CONSIT
  • ,Chicago
  • ,DEMOKRITOS
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HVH
  • ,ICO
  • ,ILUH
  • ,IOVHBOCS
  • ,IPOBCS
  • ,MAYO
  • ,MSKCC
  • ,MUV
  • ,NCI
  • ,OCGN
  • ,OSU
  • ,OUH
  • ,PBCS
  • ,SWE-BRCA
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,kConFab
PSS000078
[
  • 11,905 cases
  • , 11,662 controls
]
,
0.0 % Male samples
East Asian 11 cohorts
  • ACP
  • ,BCAC
  • ,HERPACC
  • ,LAABC
  • ,MYBRCA
  • ,SBCGS
  • ,SEBCS
  • ,SGBCC
  • ,SGWAS
  • ,TBCS
  • ,TWBCS
PSS000079
[
  • 2,867 cases
  • , 2,285 controls
]
,
0.0 % Male samples
East Asian
(Chinese)
SGWAS SGWAS (Stage 1). Smaller set of the larger test set from this study.
PSS000080 Questionnaires were mailed to women biennially to collect information on breast cancer risk factors, including age at menarche, age at first birth, parity, family history of breast cancer, height, weight, physical activity, menopausal status, age at menopause, and HT use. Incident breast cancer cases up to 1 June 2010 were also identified through biennial questionnaires. Diagnoses were confirmed with the participants (or next of kin), and permission was obtained to collect relevant medical or pathology reports. Analysis was restricted to invasive breast cancer. Mean = 26.54 years
[
  • 4,006 cases
  • , 7,874 controls
]
,
0.0 % Male samples
Mean = 53.7 years
Sd = 8.0 years
Range = [34.0, 70.0] years
European, NR NHS, NHS2 Performance metrics are reported for the "All women" results of Table 2
PSS000081 Questionnaires were mailed to women biennially to collect information on breast cancer risk factors, including age at menarche, age at first birth, parity, family history of breast cancer, height, weight, physical activity, menopausal status, age at menopause, and HT use. Incident breast cancer cases up to 1 June 2010 were also identified through biennial questionnaires. Diagnoses were confirmed with the participants (or next of kin), and permission was obtained to collect relevant medical or pathology reports. Analysis was restricted to invasive breast cancer. Mean = 23.08 years
[
  • 2,676 cases
  • , 5,484 controls
]
,
0.0 % Male samples
Mean = 53.7 years
Sd = 8.0 years
Range = [34.0, 70.0] years
European, NR NHS, NHS2 Performance metrics are reported for the "All women" results of Table 3
PSS000082 A family-based cohort including 323 breast cancer cases and 262 unaffected relatives from 101 families. Unaffected relatives derived from 49 out of 101 families.
[
  • 323 cases
  • , 262 controls
]
,
0.0 % Male samples
Mean (Cases) = 51.0 years
Sd (Cases) = 11.0 years
European NR
PSS000359 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (4) HER2-enriched-like (ER- and PR-, HER2+)
[
  • 718 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
PSS000360 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (1) luminal A-like (ER+ and/or PR+, HER2-, grade 1 & 2); 
[
  • 7,325 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
PSS000361 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (2) luminal B/HER2-negative-like (ER+ and/or PR+, HER2-, grade 3)
[
  • 1,779 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
PSS000362 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (3) luminal B-like (ER+ and/or PR+, HER2+); 
[
  • 1,682 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
PSS000363 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (5) triple-negative ( ER-, PR-, HER2-). 
[
  • 2,006 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
PSS000570 PheCode:174.1; ICD9:233.0; ICD10:C50.0, C50.1, C50.2, C50.3, C50.4, C50.5, C50.6, C50.8, C50.9, D05.1, D05.7, D05.9, Z85.3
[
  • 6,242 cases
  • , 62,289 controls
]
European UKB
PSS011328 133,830 individuals,
0.0 % Male samples
European
(British)
UKB
PSS000521
[
  • 9,473 cases
  • , 9,462 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000522
[
  • 3,263 cases
  • , 10,138 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000523
[
  • 1,025 cases
  • , 12,376 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000525
[
  • 6,332 cases
  • , 6,007 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000526
[
  • 703 cases
  • , 8,049 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000527
[
  • 2,312 cases
  • , 6,440 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS009971 3,113 individuals Other MGBB
PSS000529 Eligibility was restricted to female BRCA1 and BRCA2 carriers who at completion of the baseline questionnaire were free of any cancer diagnosis (excluding non-melanoma skin cancer) and had not undergone risk-reducing bilateral mastectomy. Participants diagosed with a first breast cancer were considered affected.
[
  • 297 cases
  • , 1,791 controls
]
,
0.0 % Male samples
European 61 cohorts
  • BCFR
  • ,BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,IBCCS
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS009971 30,716 individuals European MGBB
PSS000531 Eligibility was restricted to female BRCA1 and BRCA2 carriers who at completion of the baseline questionnaire were free of any cancer diagnosis (excluding non-melanoma skin cancer) and had not undergone risk-reducing bilateral mastectomy. Participants diagosed with a first breast cancer were considered affected.
[
  • 215 cases
  • , 1,542 controls
]
,
0.0 % Male samples
European 61 cohorts
  • BCFR
  • ,BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,IBCCS
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS009971 1,807 individuals African unspecified
(Black)
MGBB
PSS009971 786 individuals Asian unspecified MGBB
PSS007944 1,143 individuals East Asian China (East Asia) UKB
PSS011356 17,835 individuals,
0.0 % Male samples
European KARMA
PSS010142
[
  • 225 cases
  • , 1,765 controls
]
,
0.0 % Male samples
European UKB
PSS011364 56,192 individuals European UKB
PSS001054 All women carried monoallelic protein-truncating germline variants (PTVs) in the CHEK2 gene. 557 of these were the c.1100delc mutation. Cases show individuals with breast cancer.
[
  • 561 cases
  • , 199 controls
]
,
0.0 % Male samples
European GC-HBOC
PSS011365
[
  • 176,879 cases
  • , 14,000 controls
]
,
0.0 % Male samples
European
(Finnish)
FinnGen
PSS009990 207,510 individuals,
0.0 % Male samples
European, Asian unspecified European and Asian 20 cohorts
  • ABCFS
  • ,ABCS
  • ,BBCC
  • ,BREOGAN
  • ,CGPS
  • ,EMC
  • ,HEBCS
  • ,HEBON
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MARIE
  • ,MEC
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,pKARMA
BOSOM, NKR, UBCS
PSS003581 All individuals were BRCA1 carriers. BRCA1 pathogenic variants were categorized according to their known or predicted effect on protein function: “class I” included loss-of-function variants expected to yield unstable or no protein; “class II” included variants likely to produce stable mutant proteins. Pathology data were obtained from pathology reviews, medical, pathology or tumor registry records, or immunohistochemical staining of tissue microarrays. All cases were individuals with breast cancer.
[
  • 33 cases
  • , 380 controls
]
,
100.0 % Male samples
European 28 cohorts
  • BCFR
  • ,BCFR-CA
  • ,BCFR-UT
  • ,BFBOCC
  • ,BRICOH
  • ,CBCS
  • ,CNIO
  • ,CONSIT_TEAM
  • ,DEMOKRITOS
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,GC-HBOC
  • ,GEMO
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HVH
  • ,ICO
  • ,MAYO
  • ,MSKCC
  • ,MUV
  • ,OCGN
  • ,OSUCCG
  • ,SWE-BRCA
  • ,UPENN
  • ,VFCTG
  • ,kConFab
Additional controls were obtained from UCHICAGO
PSS003582 All individuals were BRCA2 carriers. BRCA2 pathogenic variants were categorized according to their known or predicted effect on protein function: “class I” included loss-of-function variants expected to yield unstable or no protein; “class II” included variants likely to produce stable mutant proteins. Pathology data were obtained from pathology reviews, medical, pathology or tumor registry records, or immunohistochemical staining of tissue microarrays. All cases were individuals with breast cancer.
[
  • 244 cases
  • , 933 controls
]
,
100.0 % Male samples
European 35 cohorts
  • BCFR
  • ,BCFR-CA
  • ,BCFR-UT
  • ,BRICOH
  • ,CNIO
  • ,CONSIT_TEAM
  • ,DEMOKRITOS
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HVH
  • ,ICO
  • ,ILUH
  • ,IOVHBOCS
  • ,IPOBCS
  • ,MAYO
  • ,MSKCC
  • ,MUV
  • ,NCI
  • ,OCGN
  • ,OSUCCG
  • ,OUH
  • ,PBCS
  • ,SWE-BRCA
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,kConFab
Additional controls were obtained from UCHICAGO
PSS003595 Cases were individuals with invasive breast cancer. Of the 585 cases, 475 were individuals with prevalent invasive breast cancer whilst 110 were individuals with incident invasive breast cancer. Incident invasive breast cancer was adjudicated by an expert panel using histopathology, metastasis imaging or other clinical evidence. Histopathology was available for 103 of the 110 individuals with incident invasive breast cancer. Of the 103 individuals, 74 had incident invasive estrogren receptor postivie/progesterone receptor positive breast cancer. Age at diagnosis of prevalent invasive breast cancer was self-reported as before or after 50 years. Of the 475 individuals with prevalent invasive breast cancer 60 had been diagnosed before the age of 50, whilst the remaining 415 had been diagnosed at age 50 or over. Median = 4.7 years
IQR = [3.65, 5.75] years
[
  • 585 cases
  • , 5,754 controls
]
,
0.0 % Male samples
Mean = 75.1 years European ASPREE
PSS003598 Cases were individuals with breast cancer. Breast cancer cases were defined by at least one occurrence of the following ICD10CM female breast cancer diagnostic codes: C50.01, C50.011, C50.012, C50.019, C50.1, C50.11, C50.111, C50.112, C50.119, C50.2, C50.21, C50.211, C50.212, C50.219, C50.3, C50.31, C50.311, C50.312, C50.319, C50.4, C50.41, C50.411, C50.412, C50.419, C50.5, C50.51, C50.511, C50.512, C50.519, C50.6, C50.61, C50.611, C50.612, C50.619, C50.81, C50.811, C50.812, C50.819, C50.91, C50.911, C50.912, C50.919, D05, D05.1, D05.10, D05.11, D05.12, D05.8, D05.81, D05.82, D05.9, D05.90, D05.91, D05.92, Z85.3,Z86.000 and ICD9CM female breast cancer diagnostic codes: 174, 174, 174.1, 174.2, 174.3, 174.4, 174.5, 174.6, 174.8, 174.9, 233, V10.3. Alternatively breast cancer cases were defined by at least two occurrences (from distinct calendar days) of breast cancer history from the following ICD10CM codes: Z85.3, Z86.000 and ICD9CM code: V10.3, if she had no breast cancer diagnostic codes.
[
  • 274 cases
  • , 3,527 controls
]
,
0.0 % Male samples
Mean = 59.6 years
Sd = 16.5 years
African unspecified eMERGE
PSS003599 Cases were individuals with breast cancer. Breast cancer cases were defined by at least one occurrence of the following ICD10CM female breast cancer diagnostic codes: C50.01, C50.011, C50.012, C50.019, C50.1, C50.11, C50.111, C50.112, C50.119, C50.2, C50.21, C50.211, C50.212, C50.219, C50.3, C50.31, C50.311, C50.312, C50.319, C50.4, C50.41, C50.411, C50.412, C50.419, C50.5, C50.51, C50.511, C50.512, C50.519, C50.6, C50.61, C50.611, C50.612, C50.619, C50.81, C50.811, C50.812, C50.819, C50.91, C50.911, C50.912, C50.919, D05, D05.1, D05.10, D05.11, D05.12, D05.8, D05.81, D05.82, D05.9, D05.90, D05.91, D05.92, Z85.3,Z86.000 and ICD9CM female breast cancer diagnostic codes: 174, 174, 174.1, 174.2, 174.3, 174.4, 174.5, 174.6, 174.8, 174.9, 233, V10.3. Alternatively breast cancer cases were defined by at least two occurrences (from distinct calendar days) of breast cancer history from the following ICD10CM codes: Z85.3, Z86.000 and ICD9CM code: V10.3, if she had no breast cancer diagnostic codes.
[
  • 3,960 cases
  • , 29,994 controls
]
,
0.0 % Male samples
Mean = 66.1 years
Sd = 17.7 years
European eMERGE
PSS003600 Cases were individuals with breast cancer. Breast cancer cases were defined by at least one occurrence of the following ICD10CM female breast cancer diagnostic codes: C50.01, C50.011, C50.012, C50.019, C50.1, C50.11, C50.111, C50.112, C50.119, C50.2, C50.21, C50.211, C50.212, C50.219, C50.3, C50.31, C50.311, C50.312, C50.319, C50.4, C50.41, C50.411, C50.412, C50.419, C50.5, C50.51, C50.511, C50.512, C50.519, C50.6, C50.61, C50.611, C50.612, C50.619, C50.81, C50.811, C50.812, C50.819, C50.91, C50.911, C50.912, C50.919, D05, D05.1, D05.10, D05.11, D05.12, D05.8, D05.81, D05.82, D05.9, D05.90, D05.91, D05.92, Z85.3,Z86.000 and ICD9CM female breast cancer diagnostic codes: 174, 174, 174.1, 174.2, 174.3, 174.4, 174.5, 174.6, 174.8, 174.9, 233, V10.3. Alternatively breast cancer cases were defined by at least two occurrences (from distinct calendar days) of breast cancer history from the following ICD10CM codes: Z85.3, Z86.000 and ICD9CM code: V10.3, if she had no breast cancer diagnostic codes.
[
  • 147 cases
  • , 2,049 controls
]
,
0.0 % Male samples
Mean = 59.9 years
Sd = 19.4 years
Hispanic or Latin American eMERGE
PSS007616
[
  • 126 cases
  • , 6,371 controls
]
African unspecified UKB
PSS007617
[
  • 53 cases
  • , 1,651 controls
]
East Asian UKB
PSS007618
[
  • 954 cases
  • , 23,951 controls
]
European non-white British ancestry UKB
PSS007619
[
  • 161 cases
  • , 7,670 controls
]
South Asian UKB
PSS007620
[
  • 2,471 cases
  • , 64,954 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS011384 12,920 individuals,
0.0 % Male samples
Mean = 50.9 years
Sd = 11.1 years
Asian unspecified BCAC
PSS011385 683 individuals,
0.0 % Male samples
Mean = 54.4 years
Sd = 9.2 years
European MINDACT
PSS009515
[
  • 5,316 cases
  • , 173,410 controls
]
,
0.0 % Male samples
East Asian
(Japanese)
BBJ
PSS010985 738 individuals Mean = 59.35 years European TCGA
PSS009519
[
  • 1,379 cases
  • , 109,218 controls
]
,
0.0 % Male samples
European
(Estonian)
EB
PSS009048 2,440 individuals European Poland (NE Europe) UKB
PSS009523
[
  • 11,573 cases
  • , 246,829 controls
]
,
0.0 % Male samples
European
(Finnish)
FinnGen
PSS009527
[
  • 1,731 cases
  • , 67,691 controls
]
,
0.0 % Male samples
European Norwegian HUNT
PSS010184
[
  • 3,138 cases
  • , 197,057 controls
]
,
0.0 % Male samples
Range = [40.0, 69.0] years European UKB
PSS009531
[
  • 64 cases
  • , 1,471 controls
]
,
0.0 % Male samples
African American or Afro-Caribbean MGBB
PSS009535
[
  • 1,513 cases
  • , 24,183 controls
]
,
0.0 % Male samples
European MGBB
PSS009539
[
  • 132 cases
  • , 7,486 controls
]
,
0.0 % Male samples
African unspecified UKB
PSS009543
[
  • 11,075 cases
  • , 332,601 controls
]
,
0.0 % Male samples
European British UKB
PSS009547
[
  • 139 cases
  • , 7,489 controls
]
,
0.0 % Male samples
South Asian UKB
PSS011015 Median = 16.9 years
[
  • 260 cases
  • , 7,741 controls
]
,
0.0 % Male samples
Mean = 53.8 years
Sd = 7.8 years
East Asian
(Japanese)
JPHC
PSS000974 Cases are individuals with breast cancer. 1380 of these are male breast cancer cases and 1671 are female breast cancer cases
[
  • 3,051 cases
  • , 2,663 controls
]
,
48.07 % Male samples
European B58C, COH, UK-BCN-MBCS, UKBGS Additional male breast cancer cases were recruited from the University of Leeds, the University of Cambridge.
PSS000273 Primary tumor samples from TCGA
[
  • 827 cases
  • , 0 controls
]
,
0.0 % Male samples
Mean = 60.0 years
Sd = 13.0 years
European TCGA
PSS000273
[
  • 0 cases
  • , 7,020 controls
]
,
0.0 % Male samples
European eMERGE
PSS000979 Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer.
[
  • 1,375 cases
  • , 12,365 controls
]
,
0.0 % Male samples
European CG
PSS000979 Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer.
[
  • 30 cases
  • , 410 controls
]
,
0.0 % Male samples
African unspecified CG
PSS000979 Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer.
[
  • 83 cases
  • , 695 controls
]
,
0.0 % Male samples
Asian unspecified CG
PSS000979 Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer.
[
  • 432 cases
  • , 3,874 controls
]
,
0.0 % Male samples
Not reported CG
PSS000980 Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant.
[
  • 1,276 cases
  • , 23,442 controls
]
,
0.0 % Male samples
European UKB
PSS000980 Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant.
[
  • 12 cases
  • , 612 controls
]
,
0.0 % Male samples
African unspecified UKB
PSS000980 Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant.
[
  • 25 cases
  • , 597 controls
]
,
0.0 % Male samples
Asian unspecified UKB
PSS000980 Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant.
[
  • 24 cases
  • , 607 controls
]
,
0.0 % Male samples
Not reported UKB
PSS007670 Cases were individuals who had been diagnosed with breast cancer.
[
  • 880 cases
  • , 900 controls
]
,
0.0 % Male samples
European
(Greek-Cypriot)
NR Cases and controls were obtained from the MASTOS study.
PSS008602 3,484 individuals European Italy (South Europe) UKB
PSS011411 10,196 individuals,
0.0 % Male samples
European, Not reported Pathways, UKB
PSS000406 Women with invasive breast cancer were considered cases and those without breast cancer were considered controls.
[
  • 4,658 cases
  • , 7,622 controls
]
,
0.0 % Male samples
Mean (Age At Diagnosis, Cases) = 57.0 years
Sd (Age At Diagnosis, Cases) = 13.0 years
Hispanic or Latin American 7 cohorts
  • CAMA
  • ,COLUMBUS
  • ,MEC
  • ,NC-BCFR
  • ,PEGEN-BC
  • ,RPEGH
  • ,SFBCS
See supplement for cohort-specific participant recruitment/ascertainment
PSS000407 Women with invasive breast cancer were considered cases and those without breast cancer were considered controls.
[
  • 2,962 cases
  • , 2,001 controls
]
,
0.0 % Male samples
Hispanic or Latin American CAMA, COLUMBUS, PEGEN-BC See supplement for cohort-specific participant recruitment/ascertainment
PSS000408 Women with invasive breast cancer were considered cases and those without breast cancer were considered controls.
[
  • 1,696 cases
  • , 5,621 controls
]
,
0.0 % Male samples
Hispanic or Latin American MEC, NC-BCFR, RPEGH, SFBCS See supplement for cohort-specific participant recruitment/ascertainment
PSS001105 Breast cancer diagnosis (invasive or ductal carcinoma in situ [DCIS]) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems. All cases had ER+ subtype
[
  • 353 cases
  • , 1,668 controls
]
,
0.0 % Male samples
Not reported PROCAS
PSS001108 Breast cancer diagnosis (invasive or ductal carcinoma in situ [DCIS]) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems. All cases had ER- subtype.
[
  • 39 cases
  • , 1,668 controls
]
,
0.0 % Male samples
Not reported PROCAS
PSS001107 Breast cancer diagnosis (invasive) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems. All cases had ER+ subtype
[
  • 288 cases
  • , 1,668 controls
]
,
0.0 % Male samples
Not reported PROCAS
PSS001106 Breast cancer diagnosis (ductal carcinoma in situ [DCIS]) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems. All cases had ER+ subtype
[
  • 65 cases
  • , 1,668 controls
]
,
0.0 % Male samples
Not reported PROCAS
PSS001111 Breast cancer diagnosis (invasive or ductal carcinoma in situ [DCIS]) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems
[
  • 405 cases
  • , 1,668 controls
]
,
0.0 % Male samples
Median = 60.0 years Not reported PROCAS
PSS001112 Breast cancer diagnosis (ductal carcinoma in situ [DCIS]) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems
[
  • 82 cases
  • , 1,668 controls
]
,
0.0 % Male samples
Not reported PROCAS
PSS001113 Breast cancer diagnosis (invasive) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems
[
  • 323 cases
  • , 1,668 controls
]
,
0.0 % Male samples
Not reported PROCAS
PSS001110 Breast cancer diagnosis (invasive) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems. All cases had ER- subtype.
[
  • 26 cases
  • , 1,668 controls
]
,
0.0 % Male samples
Not reported PROCAS
PSS001109 Breast cancer diagnosis (ductal carcinoma in situ [DCIS]) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems. All cases had ER- subtype.
[
  • 13 cases
  • , 1,668 controls
]
,
0.0 % Male samples
Not reported PROCAS
PSS000111 Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 26000
[
  • 17,901 cases
  • , 219,648 controls
]
,
0.0 % Male samples
European GERA, UKB