Trait: breast carcinoma

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
  • CA - Carcinoma of breast
  • Carcinoma of breast NOS
  • Mammary Carcinoma, Human
  • Carcinomas, Human Mammary
  • carcinoma of breast
  • Carcinoma of breast NOS (disorder)
  • carcinoma OF breast
  • Carcinoma of breast (disorder)
  • Human Mammary Carcinoma
  • Carcinoma, Human Mammary
  • Human Mammary Carcinomas
  • Mammary Carcinomas, Human
  • Carcinoma of the Breast
  • breast carcinoma
  • mammary carcinoma
  • Mammary carcinoma
  • carcinoma of the breast
Mapped term(s) 11 mapped terms
  • OMIM:615554
  • NCIT:C4872
  • UMLS:C0678222
  • OMIM:114480
  • NCIt:C4872
  • MSH:D001943
  • SNOMEDCT:254838004
  • SCTID:254838004
  • MONDO:0004989
  • DOID:3459
  • ICD10:D05
Child trait(s) 7 child traits

Associated Polygenic Score(s)

Note: This table shows all PGS for "breast carcinoma" and any child terms of this trait in the EFO hierarchy by default.
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 - Check Terms/Licenses
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

PGS Performance Metrics

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

PGS Performance Metric ID
(PPM 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
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)
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
PPM000059 PGS000028 (PRS) PSS000038 PGP000018
Shieh Y et al. (2016)
Reported Trait: Breast cancer AUROC: 0.62[0.52, 0.73]
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
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)
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)

Evaluated Samples

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
PSS000001 All breast cancer
[
  • 33,673 cases
  • , 33,381 controls
]
European 33 cohorts
  • ABCFS
  • ,ABCS
  • ,BBCC
  • ,BIGGS
  • ,BSUCH
  • ,CECILE
  • ,CGPS
  • ,CTS
  • ,DEMOKRITOS
  • ,ESTHER
  • ,GENICA
  • ,HMBCS
  • ,KBCP
  • ,LMBC
  • ,MARIE
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MTLGEBCS
  • ,NBHS
  • ,NorBCS
  • ,OBCS
  • ,ORIGO
  • ,OSU
  • ,PBCS
  • ,RPCI
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UKBGS
  • ,pKARMA
iCOGS
PSS000078
[
  • 11,905 cases
  • , 11,662 controls
]
,
0.0 % Male samples
East Asian 11 cohorts
  • ACP
  • ,BCAC
  • ,HERPACC
  • ,LAABC
  • ,MYBRCA
  • ,SBCGS
  • ,SEBCS
  • ,SGBCC
  • ,SGWAS
  • ,TBCS
  • ,TWBCS
PSS000079
[
  • 2,867 cases
  • , 2,285 controls
]
,
0.0 % Male samples
East Asian
(Chinese)
SGWAS SGWAS (Stage 1). Smaller set of the larger test set from this study.
PSS000003 ER-positive breast cancer
[
  • 21,365 cases
  • , 32,558 controls
]
European 33 cohorts
  • ABCFS
  • ,ABCS
  • ,BBCC
  • ,BIGGS
  • ,BSUCH
  • ,CECILE
  • ,CGPS
  • ,CTS
  • ,DEMOKRITOS
  • ,ESTHER
  • ,GENICA
  • ,HMBCS
  • ,KBCP
  • ,LMBC
  • ,MARIE
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MTLGEBCS
  • ,NBHS
  • ,NorBCS
  • ,OBCS
  • ,ORIGO
  • ,OSU
  • ,PBCS
  • ,RPCI
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UKBGS
  • ,pKARMA
iCOGS
PSS000080 Questionnaires were mailed to women biennially to collect information on breast cancer risk factors, including age at menarche, age at first birth, parity, family history of breast cancer, height, weight, physical activity, menopausal status, age at menopause, and HT use. Incident breast cancer cases up to 1 June 2010 were also identified through biennial questionnaires. Diagnoses were confirmed with the participants (or next of kin), and permission was obtained to collect relevant medical or pathology reports. Analysis was restricted to invasive breast cancer. Mean = 26.54 years
[
  • 4,006 cases
  • , 7,874 controls
]
,
0.0 % Male samples
Mean = 53.7 years
Sd = 8.0 years
Range = [34.0, 70.0] years
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
[
  • 2,676 cases
  • , 5,484 controls
]
,
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
[
  • 5,738 cases
  • , 32,984 controls
]
European 33 cohorts
  • ABCFS
  • ,ABCS
  • ,BBCC
  • ,BIGGS
  • ,BSUCH
  • ,CECILE
  • ,CGPS
  • ,CTS
  • ,DEMOKRITOS
  • ,ESTHER
  • ,GENICA
  • ,HMBCS
  • ,KBCP
  • ,LMBC
  • ,MARIE
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MTLGEBCS
  • ,NBHS
  • ,NorBCS
  • ,OBCS
  • ,ORIGO
  • ,OSU
  • ,PBCS
  • ,RPCI
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UKBGS
  • ,pKARMA
iCOGS
PSS000082 A family-based cohort including 323 breast cancer cases and 262 unaffected relatives from 101 families. Unaffected relatives derived from 49 out of 101 families.
[
  • 323 cases
  • , 262 controls
]
,
0.0 % Male samples
Mean (Cases) = 51.0 years
Sd (Cases) = 11.0 years
European
PSS000359 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (4) HER2-enriched-like (ER- and PR-, HER2+)
[
  • 718 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
PSS000038 Cases were ascertained by linkage to the California Cancer Registry and defined as pathologically-confirmed diagnoses of invasive breast cancers with positive/elevated ER expression on immunohistochemical staining. ER-negative cases and those with unavailable ER status were excluded. Excluded women self-identified as premenopausal, perimenopausal, or postmenopausal as a direct result of surgery or medical treatments, such as chemotherapy. Women on hormonal therapy or selective estrogen receptor modulators at the time of blood draw were also excluded.
[
  • 51 cases
  • , 51 controls
]
,
0.0 % Male samples
East Asian CPMCBHC Nested case-control study from the CPMC Breast Health Cohort.
PSS000039 Cases were ascertained by linkage to the California Cancer Registry and defined as pathologically-confirmed diagnoses of invasive breast cancers with positive/elevated ER expression on immunohistochemical staining. ER-negative cases and those with unavailable ER status were excluded. Excluded women self-identified as premenopausal, perimenopausal, or postmenopausal as a direct result of surgery or medical treatments, such as chemotherapy. Women on hormonal therapy or selective estrogen receptor modulators at the time of blood draw were also excluded.
[
  • 387 cases
  • , 387 controls
]
,
0.0 % Male samples
European CPMCBHC Nested case-control study from the CPMC Breast Health Cohort.
PSS000040 Cases were ascertained by linkage to the California Cancer Registry and defined as pathologically-confirmed diagnoses of invasive breast cancers with positive/elevated ER expression on immunohistochemical staining. ER-negative cases and those with unavailable ER status were excluded. Excluded women self-identified as premenopausal, perimenopausal, or postmenopausal as a direct result of surgery or medical treatments, such as chemotherapy. Women on hormonal therapy or selective estrogen receptor modulators at the time of blood draw were also excluded.
[
  • 495 cases
  • , 486 controls
]
,
0.0 % Male samples
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-). 
[
  • 2,006 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
PSS000362 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (3) luminal B-like (ER+ and/or PR+, HER2+); 
[
  • 1,682 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
PSS000361 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (2) luminal B/HER2-negative-like (ER+ and/or PR+, HER2-, grade 3)
[
  • 1,779 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
PSS000360 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (1) luminal A-like (ER+ and/or PR+, HER2-, grade 1 & 2); 
[
  • 7,325 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
PSS000004 Invasive breast cancer-affected
[
  • 11,428 cases
  • , 18,323 controls
]
,
0.0 % Male samples
European 10 cohorts
  • AHS
  • ,BGS
  • ,EPIC
  • ,FHRISK
  • ,KARMA
  • ,NHS
  • ,NHS2
  • ,PLCO
  • ,PROCAS
  • ,SISTER
Prospective Test Set
PSS000005 ER-positive breast cancer cases
[
  • 7,992 cases
  • , 3,436 controls
]
,
0.0 % Male samples
European 10 cohorts
  • AHS
  • ,BGS
  • ,EPIC
  • ,FHRISK
  • ,KARMA
  • ,NHS
  • ,NHS2
  • ,PLCO
  • ,PROCAS
  • ,SISTER
Prospective Test Set
PSS000006 ER-negative breast cancer cases
[
  • 1,259 cases
  • , 10,169 controls
]
,
0.0 % Male samples
European 10 cohorts
  • AHS
  • ,BGS
  • ,EPIC
  • ,FHRISK
  • ,KARMA
  • ,NHS
  • ,NHS2
  • ,PLCO
  • ,PROCAS
  • ,SISTER
Prospective Test Set
PSS000007 Incident registry-confirmed invasive breast cancers developed
[
  • 3,215 cases
  • , 186,825 controls
]
,
0.0 % Male samples
European UKB Prospective Test Set (UKB)
PSS000218 Phenotypic information was self-reported by the individual through an online, interactive health history tool
[
  • 828 cases
  • , 8,701 controls
]
,
0.0 % Male samples
European CG Samples are individuals whose healthcare provider had ordered a Color Genomics multi-gene panel test
PSS000480 Women (European Ancestry) diagnosed with unilateral breast cancer
[
  • 12,133 cases
  • , 13,398 controls
]
,
0.0 % Male samples
Asian unspecified 8 cohorts
  • CBCS
  • ,HERPACC
  • ,HKBCS
  • ,MYBRCA
  • ,NC-BCFR
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
PSS000481 Women (Asian Ancestry) diagnosed with unilateral breast cancer or CBC. CBC was defined as breast cancer (in situ or invasive) in the contralateral breast irrespective of the time since the first breast cancer.
[
  • 340 cases
  • , 12,133 controls
]
,
0.0 % Male samples
Asian unspecified 8 cohorts
  • CBCS
  • ,HERPACC
  • ,HKBCS
  • ,MYBRCA
  • ,NC-BCFR
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
PSS000482 Women (European Ancestry) diagnosed with unilateral breast cancer or CBC. CBC was defined as breast cancer (in situ or invasive) in the contralateral breast irrespective of the time since the first breast cancer.
[
  • 3,607 cases
  • , 81,000 controls
]
,
0.0 % Male samples
European 63 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,BBCC
  • ,BBCS
  • ,BCEES
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CBCS
  • ,CCGP
  • ,CGPS
  • ,CNIO-BCS
  • ,DIETCOMPLYF
  • ,FHRISK
  • ,GC-HBOC
  • ,GENICA
  • ,GESBC
  • ,GLACIER
  • ,HABCS
  • ,HCSC
  • ,HEBCS
  • ,HMBCS
  • ,HUBCS
  • ,ICICLE
  • ,KARBAC
  • ,KARMA
  • ,KBCP
  • ,KCONFAB/AOCS
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MISS
  • ,MMHS
  • ,NBCS
  • ,NC-BCFR
  • ,NCBRCS
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,PKARMA
  • ,POSH
  • ,PREFACE
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SUCCESSB
  • ,SUCCESSC
  • ,SZBCS
  • ,TNBCC
  • ,UCIBCS
PSS000014 Breast cancer ascertainment was based on self-report in an interview with a trained nurse, ICD-9 codes (174 or 174.9) or ICD-10 codes (C50.X) in hospitalization records, or a breast cancer diagnosis reported to the national registry before the date of enrollment.
[
  • 6,586 cases
  • , 151,309 controls
]
,
0.0 % Male samples
European UKB UKB Phase 2
PSS000484 Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. Median = 8.4 years
[
  • 1,027 cases
  • , 55,041 controls
]
,
0.0 % Male samples
Median (Age At Diagnosis) = 56.0 years European 41 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,KCONFAB/AOCSS
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,PKARMA
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
PSS000485 Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. Median = 8.4 years
[
  • 275 cases
  • , 55,793 controls
]
,
0.0 % Male samples
Median (Age At Diagnosis) = 56.0 years European 41 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,KCONFAB/AOCSS
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,PKARMA
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
PSS000486 Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. Median = 8.4 years
[
  • 923 cases
  • , 55,145 controls
]
,
0.0 % Male samples
Median (Age At Diagnosis) = 56.0 years European 41 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,KCONFAB/AOCSS
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,PKARMA
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
PSS000483 Women (European Ancestry) diagnosed with unilateral breast cancer
[
  • 81,000 cases
  • , 62,830 controls
]
,
0.0 % Male samples
European 63 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,BBCC
  • ,BBCS
  • ,BCEES
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CBCS
  • ,CCGP
  • ,CGPS
  • ,CNIO-BCS
  • ,DIETCOMPLYF
  • ,FHRISK
  • ,GC-HBOC
  • ,GENICA
  • ,GESBC
  • ,GLACIER
  • ,HABCS
  • ,HCSC
  • ,HEBCS
  • ,HMBCS
  • ,HUBCS
  • ,ICICLE
  • ,KARBAC
  • ,KARMA
  • ,KBCP
  • ,KCONFAB/AOCS
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MISS
  • ,MMHS
  • ,NC-BCFR
  • ,NCBCS
  • ,NorBCS
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,PKARMA
  • ,POSH
  • ,PREFACE
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SUCCESSB
  • ,SUCCESSC
  • ,SZBCS
  • ,TNBCC
  • ,UCIBCS
PSS000273 Primary tumor samples from TCGA
[
  • 827 cases
  • , 0 controls
]
,
0.0 % Male samples
Mean = 60.0 years
Sd = 13.0 years
European TCGA
PSS000273
[
  • 0 cases
  • , 7,020 controls
]
,
0.0 % Male samples
European eMERGE
PSS000071 BRCA2 mutation carriers were followed until breast or ovarian cancer diagnosis, bilateral prophylactic mastectomy, or age at last observation whichever occurred first.
[
  • 4,330 cases
  • , 3,881 controls
]
,
0.0 % Male samples
European Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry CIMBA Median censoring age (cases) = 43
PSS000406 Women with invasive breast cancer were considered cases and those without breast cancer were considered controls.
[
  • 4,658 cases
  • , 7,622 controls
]
,
0.0 % Male samples
Mean (Age At Diagnosis, Cases) = 57.0 years
Sd (Age At Diagnosis, Cases) = 13.0 years
Hispanic or Latin American 7 cohorts
  • CAMA
  • ,COLUMBUS
  • ,MEC
  • ,NC-BCFR
  • ,PEGEN-BC
  • ,RPEGH
  • ,SFBCS
See supplement for cohort-specific participant recruitment/ascertainment
PSS000407 Women with invasive breast cancer were considered cases and those without breast cancer were considered controls.
[
  • 2,962 cases
  • , 2,001 controls
]
,
0.0 % Male samples
Hispanic or Latin American CAMA, COLUMBUS, PEGEN-BC See supplement for cohort-specific participant recruitment/ascertainment
PSS000408 Women with invasive breast cancer were considered cases and those without breast cancer were considered controls.
[
  • 1,696 cases
  • , 5,621 controls
]
,
0.0 % Male samples
Hispanic or Latin American MEC, NC-BCFR, RPEGH, SFBCS See supplement for cohort-specific participant recruitment/ascertainment
PSS000443 National registries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2018, whichever came first. Disease endpoints are defined in Table S9.
[
  • 4,960 cases
  • , 71,213 controls
]
,
0.0 % Male samples
European
(Finnish)
FinnGen
PSS000070 BRCA1 mutation carriers were followed until breast or ovarian cancer diagnosis, bilateral prophylactic mastectomy, or age at last observation whichever occurred first.
[
  • 7,797 cases
  • , 7,455 controls
]
,
0.0 % Male samples
European Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry CIMBA Median censoring age (cases) = 40
PSS000111 Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 26000
[
  • 17,901 cases
  • , 219,648 controls
]
,
0.0 % Male samples
European GERA, UKB
PSS000444 National registries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2018, whichever came first. Disease endpoints are defined in Table S9.
[
  • 742 cases
  • , 37,099 controls
]
European
(Finnish)
FinnGen
PSS000074 Breast and prostate cancer cases were defined on the basis of age at diagnosis, whichever occurred first. If breast and prostate cancer occurred at the same time, individuals were treated as patients with breast cancer.
[
  • 277 cases
  • , 1,313 controls
]
,
100.0 % Male samples
European Self-reported European ancestry 37 cohorts
  • BCFR
  • ,BFBOCC
  • ,BRICOH
  • ,CBCS
  • ,CIMBA
  • ,CNIO
  • ,CONSIT
  • ,Chicago
  • ,DEMOKRITOS
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HVH
  • ,ICO
  • ,ILUH
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KCONFAB
  • ,MAYO
  • ,MSKCC
  • ,MUV
  • ,NCI
  • ,OCGN
  • ,OSU
  • ,OUH
  • ,PBCS
  • ,SWE-BRCA
  • ,UPENN
  • ,UPITT
  • ,VFCTG