| Experimental Factor Ontology (EFO) Information | |
| Identifier | EFO_0000305 |
| Description | A carcinoma that arises from epithelial cells of the breast [MONDO: DesignPattern] | Trait category |
Cancer
|
| Synonyms |
17 synonyms
|
| Mapped term(s) |
11 mapped terms
|
| Child trait(s) | 7 child traits |
| Polygenic Score (PGS) ID | PGS Name | PGS Publication (PGP) ID | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants | PGS Scoring File (FTP Link) |
|---|---|---|---|---|---|---|
| PGS000001 | PRS77_BC | PGP000001 Mavaddat N et al. J Natl Cancer Inst (2015) | Breast Cancer | breast carcinoma | 77 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000015/ScoringFiles/PGS000015.txt.gz |
| PGS000028 | PRS | PGP000018 Shieh Y et al. Breast Cancer Res Treat (2016) | Breast cancer | breast carcinoma | 83 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000052/ScoringFiles/PGS000052.txt.gz |
| PGS000072 | CC_Breast | PGP000050 Graff RE et al. bioRxiv (2020) Pre | Breast cancer | breast carcinoma | 187 | http://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 | http://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 | http://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-receptor negative breast cancer | 330 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://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 | http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000540/ScoringFiles/PGS000540.txt.gz |
|
PGS Performance Metric ID (PPM ID) |
Evaluated Score |
PGS Sample Set ID (PSS ID) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
PGS Classification Metrics | Other Metrics | Covariates Included in the Model | PGS Performance: Other Relevant Information |
|---|---|---|---|---|---|---|---|---|---|
| PPM000005 | PGS000004 (PRS313_BC) | PSS000007 | PGP000002 Mavaddat N et al. (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 | PGP000002 Mavaddat N et al. (2018) |
Reported Trait: Invasive breast cancer | OR: 1.61 [1.57, 1.65] | AUROC: 0.63 | — | study, genetic PCs 1-15 | — |
| PPM000006 | PGS000005 (PRS313_ERpos) | PSS000005 | PGP000002 Mavaddat N et al. (2018) |
Reported Trait: ER-positive breast cancer | OR: 1.68 [1.63, 1.73] | AUROC: 0.641 | — | study, genetic PCs 1-15 | — |
| PPM000007 | PGS000006 (PRS313_ERneg) | PSS000006 | PGP000002 Mavaddat N et al. (2018) |
Reported Trait: ER-negative breast cancer | OR: 1.45 [1.37, 1.53] | AUROC: 0.601 | — | study, genetic PCs 1-15 | — |
| PPM000008 | PGS000007 (PRS3820_BC) | PSS000004 | PGP000002 Mavaddat N et al. (2018) |
Reported Trait: Invasive breast cancer | OR: 1.66 [1.61, 1.7] | AUROC: 0.636 | — | study, genetic PCs 1-15 | — |
| PPM000009 | PGS000008 (PRS3820_ERpos) | PSS000005 | PGP000002 Mavaddat N et al. (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 | PGP000002 Mavaddat N et al. (2018) |
Reported Trait: ER-negative breast cancer | OR: 1.44 [1.36, 1.53] | AUROC: 0.6 | — | study, genetic PCs 1-15 | — |
| PPM000011 | PGS000001 (PRS77_BC) | PSS000004 | PGP000002 Mavaddat N et al. (2018) Ext. |
Reported Trait: Invasive breast cancer | OR: 1.46 [1.42, 1.49] | AUROC: 0.603 | — | study, genetic PCs 1-15 | — |
| PPM000012 | PGS000002 (PRS77_ERpos) | PSS000005 | PGP000002 Mavaddat N et al. (2018) Ext. |
Reported Trait: ER-positive breast cancer | OR: 1.52 [1.48, 1.56] | AUROC: 0.615 | — | study, genetic PCs 1-15 | — |
| PPM000013 | PGS000003 (PRS77_ERneg) | PSS000006 | PGP000002 Mavaddat N et al. (2018) Ext. |
Reported Trait: ER-negative breast cancer | OR: 1.35 [1.27, 1.43] | AUROC: 0.584 | — | study, genetic PCs 1-15 | — |
| PPM000056 | PGS000028 (PRS) | PSS000040 | PGP000018 Shieh Y et al. (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 |
| PPM000058 | PGS000029 (PRS_AS) | PSS000038 | PGP000018 Shieh Y et al. (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 |
| PPM000055 | PGS000028 (PRS) | PSS000040 | PGP000018 Shieh Y et al. (2016) |
Reported Trait: Breast cancer | — | AUROC: 0.6 [0.57, 0.64] | — | — | — |
| PPM000120 | PGS000045 (BCPRS_Overall) | PSS000074 | PGP000034 Lecarpentier J et al. (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 |
| PPM000121 | PGS000046 (BCPRS_ER+) | PSS000074 | PGP000034 Lecarpentier J et al. (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 |
| PPM000122 | PGS000047 (BCPRS_ER-) | PSS000074 | PGP000034 Lecarpentier J et al. (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 |
| PPM000126 | PGS000050 (PRS44) | PSS000078 | PGP000035 Wen W et al. (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 | PGP000035 Wen W et al. (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 | PGP000036 Zhang X et al. (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 |
| PPM000129 | PGS000051 (PRS67) | PSS000081 | PGP000036 Zhang X et al. (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 |
| PPM000106 | PGS000045 (BCPRS_Overall) | PSS000070 | PGP000033 Kuchenbaecker KB et al. (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 | PGP000033 Kuchenbaecker KB et al. (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 | — |
| PPM000108 | PGS000046 (BCPRS_ER+) | PSS000070 | PGP000033 Kuchenbaecker KB et al. (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 | PGP000033 Kuchenbaecker KB et al. (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 | — |
| PPM000192 | PGS000072 (CC_Breast) | PSS000111 | PGP000050 Graff RE et al. (2020) Pre |
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 |
| PPM000060 | PGS000028 (PRS) | PSS000039 | PGP000018 Shieh Y et al. (2016) |
Reported Trait: Breast cancer | — | AUROC: 0.63 [0.59, 0.67] | — | — | — |
| PPM000663 | PGS000005 (PRS313_ERpos) | PSS000363 | PGP000088 Zhang H et al. (2020) Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (triple negative) | OR: 1.59 [1.51, 1.66] | AUROC: 0.6276 | — | — | — |
| PPM000662 | PGS000004 (PRS313_BC) | PSS000363 | PGP000088 Zhang H et al. (2020) Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (triple negative) | OR: 1.38 [1.31, 1.44] | AUROC: 0.5877 | — | — | — |
| PPM000661 | PGS000216 (PRS330_TN) | PSS000363 | PGP000088 Zhang H et al. (2020) |
Reported Trait: Breast cancer intrinsic-like subtype (triple negative) | OR: 1.65 [1.57, 1.73] | AUROC: 0.6358 | — | — | — |
| PPM000660 | PGS000005 (PRS313_ERpos) | PSS000359 | PGP000088 Zhang H et al. (2020) Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (HER2-enriched-like) | OR: 1.59 [1.48, 1.71] | AUROC: 0.6291 | — | — | — |
| PPM000659 | PGS000004 (PRS313_BC) | PSS000359 | PGP000088 Zhang H et al. (2020) Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (HER2-enriched-like) | OR: 1.49 [1.38, 1.6] | AUROC: 0.6093 | — | — | — |
| PPM000658 | PGS000215 (PRS330_HER2) | PSS000359 | PGP000088 Zhang H et al. (2020) |
Reported Trait: Breast cancer intrinsic-like subtype (HER2-enriched-like) | OR: 1.53 [1.42, 1.65] | AUROC: 0.6208 | — | — | — |
| PPM000657 | PGS000005 (PRS313_ERpos) | PSS000362 | PGP000088 Zhang H et al. (2020) Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (luminal B-like) | OR: 1.66 [1.58, 1.75] | AUROC: 0.64 | — | — | — |
| PPM000656 | PGS000004 (PRS313_BC) | PSS000362 | PGP000088 Zhang H et al. (2020) Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (luminal B-like) | OR: 1.68 [1.6, 1.77] | AUROC: 0.6432 | — | — | — |
| PPM000655 | PGS000214 (PRS330_LumB) | PSS000362 | PGP000088 Zhang H et al. (2020) |
Reported Trait: Breast cancer intrinsic-like subtype (luminal B-like) | OR: 1.69 [1.61, 1.77] | AUROC: 0.6431 | — | — | — |
| PPM000654 | PGS000005 (PRS313_ERpos) | PSS000361 | PGP000088 Zhang H et al. (2020) Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) | OR: 1.62 [1.54, 1.7] | AUROC: 0.6323 | — | — | — |
| PPM000653 | PGS000004 (PRS313_BC) | PSS000361 | PGP000088 Zhang H et al. (2020) Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) | OR: 1.62 [1.55, 1.71] | AUROC: 0.6336 | — | — | — |
| PPM000652 | PGS000213 (PRS330_LumBHER2neg) | PSS000361 | PGP000088 Zhang H et al. (2020) |
Reported Trait: Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) | OR: 1.62 [1.54, 1.7] | AUROC: 0.633 | — | — | — |
| PPM000651 | PGS000005 (PRS313_ERpos) | PSS000360 | PGP000088 Zhang H et al. (2020) Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (luminal A-like) | OR: 1.82 [1.77, 1.87] | AUROC: 0.6595 | — | — | — |
| PPM000650 | PGS000004 (PRS313_BC) | PSS000360 | PGP000088 Zhang H et al. (2020) Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (luminal A-like) | OR: 1.8 [1.75, 1.86] | AUROC: 0.6573 | — | — | — |
| PPM000649 | PGS000212 (PRS330_LumA) | PSS000360 | PGP000088 Zhang H et al. (2020) |
Reported Trait: Breast cancer intrinsic-like subtype (luminal A-like) | OR: 1.83 [1.78, 1.88] | AUROC: 0.6609 | — | — | — |
| PPM000386 | PGS000007 (PRS3820_BC) | PSS000218 | PGP000057 Homburger JR et al. (2019) Ext. |
Reported Trait: Breast Cancer (personal history) | — | AUROC: 0.78 | — | age, sex | — |
| PPM001345 | PGS000004 (PRS313_BC) | PSS000450 | PGP000102 Mars N et al. (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 |
| PPM000849 | PGS000317 (PRS180) | PSS000407 | PGP000094 Shieh Y et al. (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) | — |
| PPM000024 | PGS000015 (GPS_BC) | PSS000014 | PGP000006 Khera AV et al. (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 | — |
| PPM000110 | PGS000047 (BCPRS_ER-) | PSS000070 | PGP000033 Kuchenbaecker KB et al. (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 | PGP000033 Kuchenbaecker KB et al. (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 | — |
| PPM000114 | PGS000001 (PRS77_BC) | PSS000070 | PGP000033 Kuchenbaecker KB et al. (2017) Ext. |
Reported Trait: Breast cancer in BRCA1 mutation carriers | HR: 1.13 [1.1, 1.16] | — | — | Country, birth year | — |
| PPM000115 | PGS000002 (PRS77_ERpos) | PSS000070 | PGP000033 Kuchenbaecker KB et al. (2017) Ext. |
Reported Trait: Breast cancer in BRCA1 mutation carriers | HR: 1.09 [1.06, 1.12] | — | — | Country, birth year | — |
| PPM000116 | PGS000003 (PRS77_ERneg) | PSS000070 | PGP000033 Kuchenbaecker KB et al. (2017) Ext. |
Reported Trait: Breast cancer in BRCA1 mutation carriers | HR: 1.24 [1.21, 1.28] | — | — | Country, birth year | — |
| PPM000117 | PGS000001 (PRS77_BC) | PSS000071 | PGP000033 Kuchenbaecker KB et al. (2017) Ext. |
Reported Trait: Breast cancer in BRCA2 mutation carriers | HR: 1.22 [1.17, 1.28] | — | — | Country, birth year | — |
| PPM000118 | PGS000002 (PRS77_ERpos) | PSS000071 | PGP000033 Kuchenbaecker KB et al. (2017) Ext. |
Reported Trait: Breast cancer in BRCA2 mutation carriers | HR: 1.22 [1.17, 1.27] | — | — | Country, birth year | — |
| PPM000119 | PGS000003 (PRS77_ERneg) | PSS000071 | PGP000033 Kuchenbaecker KB et al. (2017) Ext. |
Reported Trait: Breast cancer in BRCA2 mutation carriers | HR: 1.13 [1.08, 1.18] | — | — | Country, birth year | — |
| PPM000130 | PGS000051 (PRS67) | PSS000080 | PGP000036 Zhang X et al. (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 | — |
| PPM000131 | PGS000052 (sPRS161) | PSS000082 | PGP000037 Lakeman IMM et al. (2019) |
Reported Trait: breast cancer | HR: 1.16 [1.03, 1.28] | — | — | family history (estimated using the BOADICEA risk model) | — |
| PPM000059 | PGS000028 (PRS) | PSS000038 | PGP000018 Shieh Y et al. (2016) |
Reported Trait: Breast cancer | — | AUROC: 0.62 [0.52, 0.73] | — | — | — |
| PPM000903 | PGS000335 (BC_PRSCS) | PSS000450 | PGP000102 Mars N et al. (2020) |
Reported Trait: Breast cancer | OR: 1.8 [1.76, 1.84] | — | — | Age, 10 ancestry PCs, batch | — |
| PPM000899 | PGS000332 (PRS_BC) | PSS000444 | PGP000100 Mars N et al. (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 | PGP000100 Mars N et al. (2020) |
Reported Trait: Incident breast cancer | — | C-index: 0.737 | — | age, genotyping array/batch, 10 ancestry PCs | 10-year risk |
| PPM000889 | PGS000332 (PRS_BC) | PSS000443 | PGP000100 Mars N et al. (2020) |
Reported Trait: Breast cancer (incident and prevalent cases) | HR: 1.64 [1.6, 1.69] | — | — | genotyping array/batch, 10 ancestry PCs | — |
| PPM000384 | PGS000007 (PRS3820_BC) | PSS000218 | PGP000057 Homburger JR et al. (2019) Ext. |
Reported Trait: Breast Cancer (personal history) | OR: 1.56 [1.45, 1.68] | — | — | age at menarche | — |
| PPM000001 | PGS000001 (PRS77_BC) | PSS000001 | PGP000001 Mavaddat N et al. (2015) |
Reported Trait: All breast cancer | OR: 1.55 [1.52, 1.58] | C-index: 0.622 [0.619, 0.627] | — | — | — |
| PPM000002 | PGS000002 (PRS77_ERpos) | PSS000003 | PGP000001 Mavaddat N et al. (2015) |
Reported Trait: ER-positive breast cancer | OR: 1.63 [1.6, 1.67] | — | — | — | — |
| PPM000003 | PGS000003 (PRS77_ERneg) | PSS000002 | PGP000001 Mavaddat N et al. (2015) |
Reported Trait: ER-negative breast cancer | OR: 1.45 [1.4, 1.49] | — | — | — | — |
| PPM000057 | PGS000029 (PRS_AS) | PSS000038 | PGP000018 Shieh Y et al. (2016) |
Reported Trait: Breast cancer | — | AUROC: 0.64 [0.53, 0.74] | — | — | — |
| PPM000388 | PGS000007 (PRS3820_BC) | PSS000218 | PGP000057 Homburger JR et al. (2019) Ext. |
Reported Trait: Breast Cancer (personal history) | — | AUROC: 0.63 | — | — | — |
| PPM000484 | PGS000153 (cGRS_Breast) | PSS000273 | PGP000075 Shi Z et al. (2019) |
Reported Trait: Breast cancer | — | — | Odds Ratio (OR; high vs. average risk groups): 1.47 [1.23, 1.76] | — | — |
| PPM000473 | PGS000153 (cGRS_Breast) | PSS000273 | PGP000075 Shi Z et al. (2019) |
Reported Trait: Breast cancer | — | — | Mean realative risk: 1.15 [1.11, 1.2] Wilcoxon test (case vs. control) p-value: 1.48e-14 |
— | — |
| PPM000848 | PGS000317 (PRS180) | PSS000408 | PGP000094 Shieh Y et al. (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) | — |
| PPM000847 | PGS000317 (PRS180) | PSS000406 | PGP000094 Shieh Y et al. (2020) |
Reported Trait: Breast cancer | OR: 1.7 [1.63, 1.78] | — | — | — | — |
| PPM000846 | PGS000317 (PRS180) | PSS000406 | PGP000094 Shieh Y et al. (2020) |
Reported Trait: Breast cancer | OR: 1.58 [1.52, 1.64] | AUROC: 0.63 [0.62, 0.64] | — | study, genetic ancestry (ADMIXTURE) | — |
| PPM001347 | PGS000004 (PRS313_BC) | PSS000450 | PGP000102 Mars N et al. (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 |
| PPM000965 | PGS000005 (PRS313_ERpos) | PSS000485 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Estrogen-receptor positive metachronous invasive contralateral breast cancer | HR: 1.37 [1.22, 1.54] | — | — | Country | — |
| PPM000964 | PGS000005 (PRS313_ERpos) | PSS000486 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.22 [1.15, 1.3] | — | — | Country | — |
| PPM000963 | PGS000005 (PRS313_ERpos) | PSS000484 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.23 [1.16, 1.31] | — | — | Country | — |
| PPM000962 | PGS000001 (PRS77_BC) | PSS000486 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.21 [1.13, 1.29] | — | — | Country | — |
| PPM000961 | PGS000001 (PRS77_BC) | PSS000484 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.21 [1.14, 1.29] | — | — | Country | — |
| PPM000960 | PGS000004 (PRS313_BC) | PSS000480 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Unilateral breast cancer | OR: 1.56 [1.52, 1.6] | — | — | Age, country | — |
| PPM000959 | PGS000004 (PRS313_BC) | PSS000481 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Contralateral breast cancer | OR: 1.15 [1.02, 1.29] | — | — | Age, country | — |
| PPM000958 | PGS000004 (PRS313_BC) | PSS000483 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Unilateral breast cancer | OR: 1.67 [1.59, 1.76] | — | — | Age, country, PCs (1-10) | — |
| PPM000957 | PGS000004 (PRS313_BC) | PSS000482 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Contralateral breast cancer | OR: 1.39 [1.13, 1.7] | — | — | Age, country, PCs (1-10) | — |
| PPM000956 | PGS000004 (PRS313_BC) | PSS000483 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Unilateral breast cancer | OR: 1.82 [1.8, 1.84] | — | — | Age, country | — |
| PPM000955 | PGS000004 (PRS313_BC) | PSS000482 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Contralateral breast cancer | OR: 1.3 [1.26, 1.35] | — | — | Age, country | — |
| PPM000954 | PGS000004 (PRS313_BC) | PSS000485 | PGP000109 Kramer I et al. (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 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.24 [1.16, 1.32] | — | — | Country | — |
| PPM000951 | PGS000004 (PRS313_BC) | PSS000484 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.25 [1.18, 1.33] | C-index: 0.563 [0.547, 0.586] | — | Country | — |
| PPM000950 | PGS000006 (PRS313_ERneg) | PSS000486 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.24 [1.16, 1.33] | — | — | Country | — |
| PPM000949 | PGS000006 (PRS313_ERneg) | PSS000484 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.25 [1.17, 1.33] | — | — | Country | — |
| PPM000948 | PGS000005 (PRS313_ERpos) | PSS000485 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Estrogen-receptor positive metachronous invasive contralateral breast cancer | HR: 1.37 [1.22, 1.54] | — | — | Country | — |
| PPM000947 | PGS000005 (PRS313_ERpos) | PSS000486 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.22 [1.15, 1.3] | — | — | Country | — |
| PPM000946 | PGS000005 (PRS313_ERpos) | PSS000484 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.23 [1.16, 1.31] | — | — | Country | — |
| PPM000945 | PGS000001 (PRS77_BC) | PSS000486 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.21 [1.13, 1.29] | — | — | Country | — |
| PPM000944 | PGS000001 (PRS77_BC) | PSS000484 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.21 [1.14, 1.29] | — | — | Country | — |
| PPM000943 | PGS000004 (PRS313_BC) | PSS000480 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Unilateral breast cancer | OR: 1.56 [1.52, 1.6] | — | — | Age, country | — |
| PPM000942 | PGS000004 (PRS313_BC) | PSS000481 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Contralateral breast cancer | OR: 1.15 [1.02, 1.29] | — | — | Age, country | — |
| PPM000941 | PGS000004 (PRS313_BC) | PSS000483 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Unilateral breast cancer | OR: 1.67 [1.59, 1.76] | — | — | Age, country, PCs (1-10) | — |
| PPM000940 | PGS000004 (PRS313_BC) | PSS000482 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Contralateral breast cancer | OR: 1.39 [1.13, 1.7] | — | — | Age, country, PCs (1-10) | — |
| PPM000939 | PGS000004 (PRS313_BC) | PSS000483 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Unilateral breast cancer | OR: 1.82 [1.8, 1.84] | — | — | Age, country | — |
| PPM000938 | PGS000004 (PRS313_BC) | PSS000482 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Contralateral breast cancer | OR: 1.3 [1.26, 1.35] | — | — | Age, country | — |
| PPM000937 | PGS000004 (PRS313_BC) | PSS000485 | PGP000109 Kramer I et al. (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 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.24 [1.16, 1.32] | — | — | Country | — |
| PPM000935 | PGS000004 (PRS313_BC) | PSS000484 | PGP000109 Kramer I et al. (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 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.25 [1.18, 1.33] | C-index: 0.563 [0.547, 0.586] | — | Country | — |
| PPM000967 | PGS000006 (PRS313_ERneg) | PSS000486 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.24 [1.16, 1.33] | — | — | Country | — |
| PPM000966 | PGS000006 (PRS313_ERneg) | PSS000484 | PGP000109 Kramer I et al. (2020) Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.25 [1.17, 1.33] | — | — | Country | — |
| PPM000952 | PGS000004 (PRS313_BC) | PSS000484 | PGP000109 Kramer I et al. (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) | — |
| PPM000983 | PGS000345 (PRS229_BC) | PSS000491 | PGP000112 Ho WK et al. (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 | PGP000112 Ho WK et al. (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 |
| PPM000981 | PGS000346 (PRS287_ERneg) | PSS000498 | PGP000112 Ho WK et al. (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 |
| PPM000980 | PGS000347 (PRS287_ERpos) | PSS000499 | PGP000112 Ho WK et al. (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 |
| PPM000979 | PGS000344 (PRS287_BC) | PSS000497 | PGP000112 Ho WK et al. (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 |
| PPM000978 | PGS000346 (PRS287_ERneg) | PSS000495 | PGP000112 Ho WK et al. (2020) |
Reported Trait: ER-negative breast cancer | OR: 1.43 [1.35, 1.52] | — | — | PCs (1-10), study, array,batch | — |
| PPM000977 | PGS000347 (PRS287_ERpos) | PSS000496 | PGP000112 Ho WK et al. (2020) |
Reported Trait: ER-positive breast cancer | OR: 1.59 [1.53, 1.66] | — | — | PCs (1-10), study, array,batch | — |
| PPM000976 | PGS000344 (PRS287_BC) | PSS000494 | PGP000112 Ho WK et al. (2020) |
Reported Trait: Breast cancer | OR: 1.55 [1.5, 1.61] | — | — | PCs (1-10), study, array,batch | — |
| PPM000974 | PGS000347 (PRS287_ERpos) | PSS000492 | PGP000112 Ho WK et al. (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 |
| PPM000973 | PGS000344 (PRS287_BC) | PSS000491 | PGP000112 Ho WK et al. (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 |
| PPM001205 | PGS000520 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PRS-CS_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001208 | PGS000523 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_LASSOSUM_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001211 | PGS000526 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001214 | PGS000529 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001012 | PGS000004 (PRS313_BC) | PSS000521 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | — |
| PPM001018 | PGS000005 (PRS313_ERpos) | PSS000521 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | — |
| PPM001024 | PGS000006 (PRS313_ERneg) | PSS000521 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | PGP000117 Barnes DR et al. (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 | — |
| PPM001035 | PGS000004 (PRS313_BC) | PSS000531 | PGP000117 Barnes DR et al. (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 | — |
| PPM001157 | PGS000472 (PRSWEB_PHECODE174.1_20001-1002_P_5e-08_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001160 | PGS000475 (PRSWEB_PHECODE174.1_20001-1002_LASSOSUM_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001163 | PGS000478 (PRSWEB_PHECODE174.1_C3-BREAST-3_PT_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001166 | PGS000481 (PRSWEB_PHECODE174.1_C50_PRS-CS_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001169 | PGS000484 (PRSWEB_PHECODE174.1_D05_PT_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001172 | PGS000487 (PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001175 | PGS000490 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_P_5e-08_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 |
| PPM001178 | PGS000493 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PT_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001181 | PGS000496 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_LASSOSUM_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 |
| PPM001195 | PGS000510 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 |
| PPM001198 | PGS000513 (PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_P_5e-08_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001201 | PGS000516 (PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_LASSOSUM_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001204 | PGS000519 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PRS-CS_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001207 | PGS000522 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PT_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 |
| PPM001210 | PGS000525 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_P_5e-08_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001188 | PGS000503 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_LASSOSUM_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001192 | PGS000507 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001213 | PGS000528 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PRS-CS_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 |
| PPM001216 | PGS000531 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_LASSOSUM_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001219 | PGS000534 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_P_5e-08_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 |
| PPM001222 | PGS000537 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001225 | PGS000540 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 |
| PPM000984 | PGS000345 (PRS229_BC) | PSS000497 | PGP000112 Ho WK et al. (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 |
| PPM000975 | PGS000346 (PRS287_ERneg) | PSS000493 | PGP000112 Ho WK et al. (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 |
| PPM000902 | PGS000335 (BC_PRSCS) | PSS000450 | PGP000102 Mars N et al. (2020) |
Reported Trait: Breast cancer | HR: 1.71 [1.68, 1.75] | — | — | 10 ancestry PCs, batch, age as time scale | — |
| PPM001158 | PGS000473 (PRSWEB_PHECODE174.1_20001-1002_PRS-CS_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001161 | PGS000476 (PRSWEB_PHECODE174.1_C3-BREAST-3_P_5e-08_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001164 | PGS000479 (PRSWEB_PHECODE174.1_C3-BREAST-3_LASSOSUM_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001167 | PGS000482 (PRSWEB_PHECODE174.1_C50_PT_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001170 | PGS000485 (PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_P_5e-08_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001173 | PGS000488 (PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001176 | PGS000491 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PRS-CS_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001179 | PGS000494 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PT_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001182 | PGS000497 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001186 | PGS000501 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PT_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001189 | PGS000504 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_LASSOSUM_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001215 | PGS000530 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 |
| PPM001217 | PGS000532 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_LASSOSUM_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001220 | PGS000535 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001224 | PGS000539 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001346 | PGS000332 (PRS_BC) | PSS000450 | PGP000102 Mars N et al. (2020) Ext. |
Reported Trait: Breast cancer | HR: 1.63 [1.6, 1.67] | — | — | 10 ancestry PCs, batch, age as time scale | — |
| PPM001191 | PGS000506 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_P_5e-08_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 |
| PPM001193 | PGS000508 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001196 | PGS000511 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001199 | PGS000514 (PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_PRS-CS_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001202 | PGS000517 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 | PGP000118 Fritsche LG et al. (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 |
| PPM001185 | PGS000500 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PRS-CS_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 |
| PPM001165 | PGS000480 (PRSWEB_PHECODE174.1_C50_P_5e-08_MGI_20200608) | PSS000549 | PGP000118 Fritsche LG et al. (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 |
| PPM001223 | PGS000538 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_UKB_20200608) | PSS000570 | PGP000118 Fritsche LG et al. (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 |
| PPM001348 | PGS000332 (PRS_BC) | PSS000450 | PGP000102 Mars N et al. (2020) Ext. |
Reported Trait: Breast cancer | OR: 1.71 [1.67, 1.75] | — | — | Age, 10 ancestry PCs, batch | — |
|
PGS Sample Set ID (PSS ID) |
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 |
|---|---|---|---|---|---|---|---|---|
| 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. | — | [ ,
0.0 % Male samples |
Mean Age (At The End Of Follow-Up) = 58.5 years Iqr = [45.1, 72.2] years |
European (Finnish) |
— | FinnGen | — |
| PSS000001 | All breast cancer | — | [
|
— | European | — | 33 cohorts
|
iCOGS |
| PSS000078 | — | — | [ ,
0.0 % Male samples |
— | East Asian | — | 11 cohorts
|
— |
| PSS000079 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Chinese) |
— | SGWAS | SGWAS (Stage 1). Smaller set of the larger test set from this study. |
| PSS000003 | ER-positive breast cancer | — | [
|
— | European | — | 33 cohorts
|
iCOGS |
| 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 | [ ,
0.0 % Male samples |
Mean = 53.7 years Sd = 8.0 years Range = [34.0, 70.0] years |
Other | The study population was described as “predominantly white” [PGS Catalog Broad Ancestral Category: European] | 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 | [ ,
0.0 % Male samples |
Mean = 53.7 years Sd = 8.0 years Range = [34.0, 70.0] years |
Other | The study population was described as “predominantly white” [PGS Catalog Broad Ancestral Category: European] | NHS, NHS2 | Performance metrics are reported for the "All women" results of Table 3 |
| PSS000002 | ER-negative breast cancer | — | [
|
— | European | — | 33 cohorts
|
iCOGS |
| 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. | — | [ ,
0.0 % Male samples |
Mean (Cases) = 51.0 years Sd (Cases) = 11.0 years |
European | — | — | |
| 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+) | — | [ ,
0.0 % Male samples |
— | European | — | 6 cohorts
|
Heldout subset (20%) of the BCAC consortium data |
| 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. | — | [ ,
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. | — | [ ,
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. | — | [ ,
0.0 % Male samples |
— | Other | Cohort contains individuals of East Asian, European & Hispanic ancestries | CPMCBHC | Nested case-control study from the CPMC Breast Health Cohort. |
| PSS000363 | Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (5) triple-negative ( ER-, PR-, HER2-). | — | [ ,
0.0 % Male samples |
— | European | — | 6 cohorts
|
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+); | — | [ ,
0.0 % Male samples |
— | European | — | 6 cohorts
|
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) | — | [ ,
0.0 % Male samples |
— | European | — | 6 cohorts
|
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); | — | [ ,
0.0 % Male samples |
— | European | — | 6 cohorts
|
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 | — | [
|
— | European | — | UKB | — |
| PSS000004 | Invasive breast cancer-affected | — | [ ,
0.0 % Male samples |
— | European | — | 10 cohorts
|
Prospective Test Set |
| PSS000005 | ER-positive breast cancer cases | — | [ ,
0.0 % Male samples |
— | European | — | 10 cohorts
|
Prospective Test Set |
| PSS000006 | ER-negative breast cancer cases | — | [ ,
0.0 % Male samples |
— | European | — | 10 cohorts
|
Prospective Test Set |
| PSS000007 | Incident registry-confirmed invasive breast cancers developed | — | [ ,
0.0 % Male samples |
— | European | — | UKB | Prospective Test Set (UKB) |
| PSS000492 | — | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | 10 cohorts
|
— |
| PSS000493 | — | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | 10 cohorts
|
— |
| PSS000521 | — | — | [ ,
0.0 % Male samples |
— | European | — | 59 cohorts
|
— |
| PSS000522 | — | — | [ ,
0.0 % Male samples |
— | European | — | 59 cohorts
|
— |
| PSS000523 | — | — | [ ,
0.0 % Male samples |
— | European | — | 59 cohorts
|
— |
| PSS000218 | Phenotypic information was self-reported by the individual through an online, interactive health history tool | — | [ ,
0.0 % Male samples |
— | European | — | CG | Samples are individuals whose healthcare provider had ordered a Color Genomics multi-gene panel test |
| PSS000525 | — | — | [ ,
0.0 % Male samples |
— | European | — | 59 cohorts
|
— |
| PSS000526 | — | — | [ ,
0.0 % Male samples |
— | European | — | 59 cohorts
|
— |
| PSS000527 | — | — | [ ,
0.0 % Male samples |
— | European | — | 59 cohorts
|
— |
| PSS000494 | — | — | [ ,
0.0 % Male samples |
— | South Asian (Indian) |
— | MyBrCa, SGBCC | — |
| 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. | — | [ ,
0.0 % Male samples |
— | European | — | 61 cohorts
|
— |
| 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. | — | [ ,
0.0 % Male samples |
— | European | — | 61 cohorts
|
— |
| PSS000480 | Women (European Ancestry) diagnosed with unilateral breast cancer | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | 8 cohorts
|
— |
| 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. | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | 8 cohorts
|
— |
| 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. | — | [ ,
0.0 % Male samples |
— | European | — | 63 cohorts
|
— |
| 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. | — | [ ,
0.0 % Male samples |
— | European | — | UKB | UKB Phase 2 |
| 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 | [ ,
0.0 % Male samples |
Median (Age At Diagnosis) = 56.0 years | European | — | 41 cohorts
|
— |
| 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 | [ ,
0.0 % Male samples |
Median (Age At Diagnosis) = 56.0 years | European | — | 41 cohorts
|
— |
| 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 | [ ,
0.0 % Male samples |
Median (Age At Diagnosis) = 56.0 years | European | — | 41 cohorts
|
— |
| PSS000483 | Women (European Ancestry) diagnosed with unilateral breast cancer | — | [ ,
0.0 % Male samples |
— | European | — | 63 cohorts
|
— |
| PSS000273 | Primary tumor samples from TCGA | — | [ ,
0.0 % Male samples |
Mean = 60.0 years Sd = 13.0 years |
European | — | TCGA | — |
| PSS000273 | — | — | [ ,
0.0 % Male samples |
— | European | — | eMERGE | — |
| PSS000071 | BRCA2 mutation carriers were followed until breast or ovarian cancer diagnosis, bilateral prophylactic mastectomy, or age at last observation whichever occurred first. | — | [ ,
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 |
| PSS000406 | Women with invasive breast cancer were considered cases and those without breast cancer were considered 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
|
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. | — | [ ,
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. | — | [ ,
0.0 % Male samples |
— | Hispanic or Latin American | — | MEC, NC-BCFR, RPEGH, SFBCS | See supplement for cohort-specific participant recruitment/ascertainment |
| PSS000491 | — | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | 10 cohorts
|
— |
| PSS000494 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Chinese) |
— | MyBrCa, SGBCC | — |
| PSS000494 | — | — | [ ,
0.0 % Male samples |
— | South East Asian (Malay) |
— | MyBrCa, SGBCC | — |
| PSS000495 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Chinese) |
— | MyBrCa, SGBCC | — |
| PSS000495 | — | — | [ ,
0.0 % Male samples |
— | South East Asian (Malay) |
— | MyBrCa, SGBCC | — |
| PSS000495 | — | — | [ ,
0.0 % Male samples |
— | South Asian (Indian) |
— | MyBrCa, SGBCC | — |
| PSS000496 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Chinese) |
— | MyBrCa, SGBCC | — |
| PSS000496 | — | — | [ ,
0.0 % Male samples |
— | South East Asian (Malay) |
— | MyBrCa, SGBCC | — |
| PSS000496 | — | — | [ ,
0.0 % Male samples |
— | South Asian (Indian) |
— | MyBrCa, SGBCC | — |
| PSS000497 | — | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | CanBCS, LAABC, NC-BCFR | — |
| PSS000498 | — | — | [
|
— | Asian unspecified | — | CanBCS, LAABC, NC-BCFR | — |
| PSS000499 | — | — | [
|
— | Asian unspecified | — | CanBCS, LAABC, NC-BCFR | — |
| PSS000500 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Chinese) |
— | SCHS | — |
| 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. | — | [ ,
0.0 % Male samples |
— | European (Finnish) |
— | FinnGen | — |
| PSS000070 | BRCA1 mutation carriers were followed until breast or ovarian cancer diagnosis, bilateral prophylactic mastectomy, or age at last observation whichever occurred first. | — | [ ,
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 |
| 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 | — | [ ,
0.0 % Male samples |
— | European | — | GERA, UKB | — |
| 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. | — | [
|
— | European (Finnish) |
— | FinnGen | — |
| 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 | — | [
|
— | 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. | — | [ ,
100.0 % Male samples |
— | European | Self-reported European ancestry | 37 cohorts
|
— |