Trait: estrogen-receptor negative breast cancer

Trait Information
Identifier MONDO_0006513
Description A subtype of breast cancer that is estrogen-receptor negative [EFO: 1000650]
Trait category
Other disease
Synonym ER- breast cancer
Child trait(s) triple-negative breast carcinoma

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "estrogen-receptor negative breast cancer" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000003
(PRS77_ERneg)
 PGP000001 |
Mavaddat N et al. J Natl Cancer Inst (2015)
 ER-negative breast cancer estrogen-receptor negative breast cancer 77
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000003/ScoringFiles/PGS000003.txt.gz
PGS000006
(PRS313_ERneg)
 PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
 ER-negative breast cancer estrogen-receptor negative breast cancer 313
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000006/ScoringFiles/PGS000006.txt.gz
PGS000009
(PRS3820_ERneg)
 PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
 ER-negative breast cancer estrogen-receptor negative breast cancer 3,820
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000009/ScoringFiles/PGS000009.txt.gz
PGS000047
(BCPRS_ER-)
 PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
 Estrogen receptor [ER]-negative breast cancer estrogen-receptor negative breast cancer 53
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000047/ScoringFiles/PGS000047.txt.gz
PGS000216
(PRS330_TN)
 PGP000088 |
Zhang H et al. Nat Genet (2020)
 Breast cancer intrinsic-like subtype (triple negative) triple-negative breast carcinoma 330
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000216/ScoringFiles/PGS000216.txt.gz
PGS000346
(PRS287_ERneg)
 PGP000112 |
Ho WK et al. Nat Commun (2020)
 Estrogen receptor negative breast cancer estrogen-receptor negative breast cancer 287
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000346/ScoringFiles/PGS000346.txt.gz
PGS000775
(PRS179_ERneg)
 PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
 Estrogen receptor negative breast cancer estrogen-receptor negative breast cancer 179
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000775/ScoringFiles/PGS000775.txt.gz
PGS004867
(PRS105_ERnegBC)
 PGP000612 |
Gao C et al. J Clin Oncol (2021)
 ER-negative breast cancer estrogen-receptor negative breast cancer 105
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004867/ScoringFiles/PGS004867.txt.gz
PGS004890
(CC-GWAS_PRS)
 PGP000620 |
Sun X et al. Cancer Res (2024)
 Triple negative breast cancer versus luminal breast cancer triple-negative breast carcinoma 25
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004890/ScoringFiles/PGS004890.txt.gz
PGS004891
(TNBC_PRS25)
 PGP000620 |
Sun X et al. Cancer Res (2024)
 Triple negative breast cancer triple-negative breast carcinoma 25
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004891/ScoringFiles/PGS004891.txt.gz
PGS004892
(TNBC_PRS41)
 PGP000620 |
Sun X et al. Cancer Res (2024)
 Triple negative breast cancer triple-negative breast carcinoma 41
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004892/ScoringFiles/PGS004892.txt.gz
PGS004895
(ERneg.prs)
 PGP000621 |
Gao G et al. Hum Mol Genet (2022)
 Estrogen receptor negative breast cancer estrogen-receptor negative breast cancer 28,405
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004895/ScoringFiles/PGS004895.txt.gz
PGS005106
(PRSAFR_ER−)
 PGP000694 |
Jia G et al. Nat Genet (2024)
 ER-negative breast cancer estrogen-receptor negative breast cancer 24
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005106/ScoringFiles/PGS005106.txt.gz
PGS005382
(Erneg_M1)
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Estrogen-receptor negative breast cancer estrogen-receptor negative breast cancer 2,005,141
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005382/ScoringFiles/PGS005382.txt.gz
PGS005383
(Erneg_M2)
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Estrogen-receptor negative breast cancer estrogen-receptor negative breast cancer 37,783
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005383/ScoringFiles/PGS005383.txt.gz
PGS005384
(TNBC_M1)
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Triple-negative breast cancer triple-negative breast carcinoma 554,959
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005384/ScoringFiles/PGS005384.txt.gz
PGS005385
(TNBC_M2)
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Triple-negative breast cancer triple-negative breast carcinoma 37,226
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005385/ScoringFiles/PGS005385.txt.gz
PGS005386
(TNBC_162_M1)
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Triple-negative breast cancer triple-negative breast carcinoma 162
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005386/ScoringFiles/PGS005386.txt.gz
PGS005387
(TNBC_162_M2)
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Triple-negative breast cancer triple-negative breast carcinoma 162
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005387/ScoringFiles/PGS005387.txt.gz

Performance Metrics

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

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM000013 PGS000003
(PRS77_ERneg)
 PSS000006|
European Ancestry|
11,428 individuals
 PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
|Ext.		 Reported Trait: ER-negative breast cancer OR: 1.35 [1.27, 1.43] AUROC: 0.584 — study, genetic PCs 1-15 —
PPM000116 PGS000003
(PRS77_ERneg)
 PSS000070|
European Ancestry|
15,252 individuals
 PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
|Ext.		 Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.24 [1.21, 1.28] — — Country, birth year —
PPM000119 PGS000003
(PRS77_ERneg)
 PSS000071|
European Ancestry|
8,211 individuals
 PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
|Ext.		 Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.13 [1.08, 1.18] — — Country, birth year —
PPM000003 PGS000003
(PRS77_ERneg)
 PSS000002|
European Ancestry|
38,722 individuals
 PGP000001 |
Mavaddat N et al. J Natl Cancer Inst (2015)
 Reported Trait: ER-negative breast cancer OR: 1.45 [1.4, 1.49] — — — —
PPM000007 PGS000006
(PRS313_ERneg)
 PSS000006|
European Ancestry|
11,428 individuals
 PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
 Reported Trait: ER-negative breast cancer OR: 1.45 [1.37, 1.53] AUROC: 0.601 — study, genetic PCs 1-15 —
PPM000950 PGS000006
(PRS313_ERneg)
 PSS000486|
European Ancestry|
56,068 individuals
 PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.		 Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.24 [1.16, 1.33] — — Country —
PPM000949 PGS000006
(PRS313_ERneg)
 PSS000484|
European Ancestry|
56,068 individuals
 PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.		 Reported Trait: Metachronous contralateral breast cancer HR: 1.25 [1.17, 1.33] — — Country —
PPM000967 PGS000006
(PRS313_ERneg)
 PSS000486|
European Ancestry|
56,068 individuals
 PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.		 Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.24 [1.16, 1.33] — — Country —
PPM000966 PGS000006
(PRS313_ERneg)
 PSS000484|
European Ancestry|
56,068 individuals
 PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.		 Reported Trait: Metachronous contralateral breast cancer HR: 1.25 [1.17, 1.33] — — Country —
PPM001024 PGS000006
(PRS313_ERneg)
 PSS000521|
European Ancestry|
18,935 individuals
 PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.		 Reported Trait: Breast cancer in BRCA1 carriers HR: 1.29 [1.25, 1.33] — — birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives —
PPM001025 PGS000006
(PRS313_ERneg)
 PSS000525|
European Ancestry|
12,339 individuals
 PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.		 Reported Trait: Breast cancer in BRCA2 carriers HR: 1.23 [1.18, 1.27] — — birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives —
PPM001026 PGS000006
(PRS313_ERneg)
 PSS000522|
European Ancestry|
13,401 individuals
 PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.		 Reported Trait: ER negative breast cancer in BRCA1 carriers HR: 1.23 [1.18, 1.27] — — birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives —
PPM001027 PGS000006
(PRS313_ERneg)
 PSS000526|
European Ancestry|
8,752 individuals
 PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.		 Reported Trait: ER negative breast cancer in BRCA2 carriers HR: 1.29 [1.19, 1.41] — — birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives —
PPM001028 PGS000006
(PRS313_ERneg)
 PSS000523|
European Ancestry|
13,401 individuals
 PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.		 Reported Trait: ER positive breast cancer in BRCA1 carriers HR: 1.29 [1.21, 1.37] — — birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives —
PPM001029 PGS000006
(PRS313_ERneg)
 PSS000527|
European Ancestry|
8,752 individuals
 PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.		 Reported Trait: ER positive breast cancer in BRCA2 carriers HR: 1.21 [1.15, 1.27] — — birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives —
PPM001034 PGS000006
(PRS313_ERneg)
 PSS000529|
European Ancestry|
2,088 individuals
 PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.		 Reported Trait: Incident breast cancer in BRCA1 carriers HR: 1.28 [1.14, 1.44] — — family history of the appropriate cancer in first- and second-degree relatives —
PPM001949 PGS000006
(PRS313_ERneg)
 PSS000974|
European Ancestry|
5,714 individuals
 PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.		 Reported Trait: Breast cancer in males OR: 1.37 [1.29, 1.47] — Odds Ratio (OR, top 20% vs. bottom 20%): 2.39 [1.93, 2.96] — —
PPM001950 PGS000006
(PRS313_ERneg)
 PSS000974|
European Ancestry|
5,714 individuals
 PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.		 Reported Trait: Breast cancer in females OR: 1.38 [1.29, 1.47] — Odds Ratio (OR, top 20% vs. bottom 20%): 2.51 [2.05, 3.07] — —
PPM002003 PGS000006
(PRS313_ERneg)
 PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
 PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
|Ext.		 Reported Trait: Estrogen-receptor negative breast cancer OR: 1.21 [1.15, 1.27] — Odds Ratio (OR, top 10% vs. middle 20%): 1.47 [1.25, 1.74] Age, study, PCs(1-10) Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies.
PPM002004 PGS000006
(PRS313_ERneg)
 PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
 PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
|Ext.		 Reported Trait: Estrogen-receptor negative breast cancer — AUROC: 0.562 [0.551, 0.573] — Study, PCs(1-10) Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies.
PPM005124 PGS000006
(PRS313_ERneg)
 PSS003582|
European Ancestry|
1,177 individuals
 PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.		 Reported Trait: Male estrogen receptor negative breast cancer in BRCA2 carriers OR: 1.23 [1.07, 1.41] — — PCs(1-3) —
PPM005125 PGS000006
(PRS313_ERneg)
 PSS003582|
European Ancestry|
1,177 individuals
 PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.		 Reported Trait: Male estrogen receptor negative breast cancer in BRCA2 carriers OR: 1.23 [1.07, 1.42] — — PCs(1-3), family history of male breast cancer in first and second degree relatives —
PPM005126 PGS000006
(PRS313_ERneg)
 PSS003582|
European Ancestry|
1,177 individuals
 PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.		 Reported Trait: Male estrogen receptor negative breast cancer in BRCA2 carriers OR: 1.25 [1.09, 1.45] — — PCs(1-3), family history of female breast cancer in first and second degree relatives —
PPM014890 PGS000006
(PRS313_ERneg)
 PSS009919|
Ancestry Not Reported|
2,559 individuals
 PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.		 Reported Trait: Cumulus Mammogram Risk Scores β: 0.059 [0.015, 0.103] — — first 10 principal components —
PPM014892 PGS000006
(PRS313_ERneg)
 PSS009919|
Ancestry Not Reported|
2,559 individuals
 PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.		 Reported Trait: Altocumulus Mammogram Risk Scores β: 0.068 [0.024, 0.112] — — first 10 principal components —
PPM014893 PGS000006
(PRS313_ERneg)
 PSS009919|
Ancestry Not Reported|
2,559 individuals
 PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.		 Reported Trait: Cirrocumulus Mammogram Risk Scores β: 0.046 [0.003, 0.089] — — first 10 principal components —
PPM014894 PGS000006
(PRS313_ERneg)
 PSS009919|
Ancestry Not Reported|
2,559 individuals
 PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.		 Reported Trait: Cumulus-white Mammogram Risk Scores β: 0.045 [0.002, 0.089] — — first 10 principal components —
PPM014891 PGS000006
(PRS313_ERneg)
 PSS009919|
Ancestry Not Reported|
2,559 individuals
 PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.		 Reported Trait: Cumulus percent Mammogram Risk Scores β: 0.065 [0.021, 0.109] — — first 10 principal components —
PPM022289 PGS000006
(PRS313_ERneg)
 PSS011900|
African Ancestry|
4,814 individuals
 PGP000694 |
Jia G et al. Nat Genet (2024)
|Ext.		 Reported Trait: ER-negative breast cancer OR: 1.42 [1.27, 1.6] AUROC: 0.6 [0.56, 0.63] — — —
PPM000010 PGS000009
(PRS3820_ERneg)
 PSS000006|
European Ancestry|
11,428 individuals
 PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
 Reported Trait: ER-negative breast cancer OR: 1.44 [1.36, 1.53] AUROC: 0.6 — study, genetic PCs 1-15 —
PPM000122 PGS000047
(BCPRS_ER-)
 PSS000074|
European Ancestry|
1,590 individuals
 PGP000034 |
Lecarpentier J et al. J Clin Oncol (2017)
|Ext.		 Reported Trait: Breast cancer in male carriers of BRCA1/2 mutations OR: 1.19 [1.05, 1.35] AUROC: 0.55 [0.51, 0.59] — 3 PCs of ancestry, age at breast or prostate cancer for patient-cases and age at interview for controls, mutation status of BRCA1 or BRCA2 PGS predicting Male Breast Cancer are based on association statistics from a Female Breast Cancer GWAS
PPM000110 PGS000047
(BCPRS_ER-)
 PSS000070|
European Ancestry|
15,252 individuals
 PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
 Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.27 [1.23, 1.31] C-index: 0.581 [0.571, 0.592] — Country, birth year —
PPM000111 PGS000047
(BCPRS_ER-)
 PSS000071|
European Ancestry|
8,211 individuals
 PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
 Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.15 [1.1, 1.2] C-index: 0.538 [0.523, 0.553] — Country, birth year —
PPM014913 PGS000047
(BCPRS_ER-)
 PSS009925|
Ancestry Not Reported|
295 individuals
 PGP000355 |
Borde J et al. BMC Cancer (2022)
|Ext.		 Reported Trait: Estrogen receptor [ER]-negative breast cancer in BRAC2 PV carriers OR: 2.27 [1.45, 3.78] — — — effective SNP set size of N=50
PPM000661 PGS000216
(PRS330_TN)
 PSS000363|
European Ancestry|
22,821 individuals
 PGP000088 |
Zhang H et al. Nat Genet (2020)
 Reported Trait: Breast cancer intrinsic-like subtype (triple negative) OR: 1.65 [1.57, 1.73] AUROC: 0.6358 — — —
PPM000981 PGS000346
(PRS287_ERneg)
 PSS000498|
Additional Asian Ancestries|
1,492 individuals
 PGP000112 |
Ho WK et al. Nat Commun (2020)
 Reported Trait: ER-negative breast cancer OR: 1.49 [1.26, 1.75] AUROC: 0.587 — PCs (1-10), study, array,batch Standardised to SDs of PRs in European controls
PPM000978 PGS000346
(PRS287_ERneg)
 PSS000495|
Multi-ancestry (excluding European)|
9,391 individuals
 PGP000112 |
Ho WK et al. Nat Commun (2020)
 Reported Trait: ER-negative breast cancer OR: 1.43 [1.35, 1.52] — — PCs (1-10), study, array,batch —
PPM000975 PGS000346
(PRS287_ERneg)
 PSS000493|
Additional Asian Ancestries|
21,247 individuals
 PGP000112 |
Ho WK et al. Nat Commun (2020)
 Reported Trait: ER-negative breast cancer OR: 1.41 [1.36, 1.46] AUROC: 0.594 — PCs (1-10), study, array,batch Standardised to SDs of PRs in European controls
PPM002009 PGS000775
(PRS179_ERneg)
 PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
 PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
 Reported Trait: Estrogen-receptor negative breast cancer OR: 1.31 [1.24, 1.37] — — Age, study, PCs(1-10) Only 163 of the original 179 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies
PPM002010 PGS000775
(PRS179_ERneg)
 PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
 PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
 Reported Trait: Estrogen-receptor negative breast cancer — AUROC: 0.578 [0.564, 0.591] — Study, PCs(1-10) Only 163 of the original 179 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies
PPM021106 PGS004867
(PRS105_ERnegBC)
 PSS011529|
European Ancestry|
52,925 individuals
 PGP000612 |
Gao C et al. J Clin Oncol (2021)
 Reported Trait: Breast cancer among BRAC1 carriers younger than 40 years OR: 61.05 [25.31, 147.28] — — — Odds ratio is for a 1-SD change from the median PRS in BRCA1 variant carriers vs non-carriers
PPM021107 PGS004867
(PRS105_ERnegBC)
 PSS011529|
European Ancestry|
52,925 individuals
 PGP000612 |
Gao C et al. J Clin Oncol (2021)
 Reported Trait: Breast cancer among BRAC2 carriers younger than 40 years OR: 13.16 [4.29, 35.2] — — — Odds ratio is for a 1-SD change from the median PRS in BRCA2 variant carriers vs non-carriers
PPM021108 PGS004867
(PRS105_ERnegBC)
 PSS011529|
European Ancestry|
52,925 individuals
 PGP000612 |
Gao C et al. J Clin Oncol (2021)
 Reported Trait: Breast cancer among ATM carriers younger than 40 years OR: 1.78 [0.92, 3.46] — — — Odds ratio is for a 1-SD change from the median PRS in ATM variant carriers vs non-carriers
PPM021109 PGS004867
(PRS105_ERnegBC)
 PSS011529|
European Ancestry|
52,925 individuals
 PGP000612 |
Gao C et al. J Clin Oncol (2021)
 Reported Trait: Breast cancer among CHEK2 carriers younger than 40 years OR: 1.79 [1.02, 3.14] — — — Odds ratio is for a 1-SD change from the median PRS in CHEK2 variant carriers vs non-carriers
PPM021110 PGS004867
(PRS105_ERnegBC)
 PSS011529|
European Ancestry|
52,925 individuals
 PGP000612 |
Gao C et al. J Clin Oncol (2021)
 Reported Trait: Breast cancer among PALB2 carriers younger than 40 years OR: 11.95 [6.41, 22.3] — — — Odds ratio is for a 1-SD change from the median PRS in PALB2 variant carriers vs non-carriers
PPM021111 PGS004867
(PRS105_ERnegBC)
 PSS011529|
European Ancestry|
52,925 individuals
 PGP000612 |
Gao C et al. J Clin Oncol (2021)
 Reported Trait: Breast cancer among BARD1 carriers younger than 40 years OR: 4.42 [1.9, 10.3] — — — Odds ratio is for a 1-SD change from the median PRS in BARD1 variant carriers vs non-carriers
PPM021112 PGS004867
(PRS105_ERnegBC)
 PSS011529|
European Ancestry|
52,925 individuals
 PGP000612 |
Gao C et al. J Clin Oncol (2021)
 Reported Trait: Breast cancer among BRIP1 carriers younger than 40 years OR: 2.45 [1.0, 5.97] — — — Odds ratio is for a 1-SD change from the median PRS in BRIP1 variant carriers vs non-carriers
PPM021270 PGS004890
(CC-GWAS_PRS)
 PSS011672|
Multi-ancestry (including European)|
9,868 individuals
 PGP000620 |
Sun X et al. Cancer Res (2024)
 Reported Trait: Triple negative breast cancer compared to luminal-like breast cancer — — Odds ratio (OR, high vs low tertile): 2.62 [1.44, 4.75] Age at initial pathologic diagnosis of breast cancer, pathologic stage —
PPM021271 PGS004891
(TNBC_PRS25)
 PSS011672|
Multi-ancestry (including European)|
9,868 individuals
 PGP000620 |
Sun X et al. Cancer Res (2024)
 Reported Trait: Triple negative breast cancer — — Odds ratio (OR, high vs low tertile): 1.54 [0.92, 2.59] Age at initial pathologic diagnosis of breast cancer, pathologic stage —
PPM021272 PGS004892
(TNBC_PRS41)
 PSS011672|
Multi-ancestry (including European)|
9,868 individuals
 PGP000620 |
Sun X et al. Cancer Res (2024)
 Reported Trait: Triple negative breast cancer — — Odds ratio (OR, high vs low tertile): 1.53 [0.92, 2.55] Age at initial pathologic diagnosis of breast cancer, pathologic stage —
PPM021275 PGS004895
(ERneg.prs)
 PSS011673|
African Ancestry|
5,821 individuals
 PGP000621 |
Gao G et al. Hum Mol Genet (2022)
 Reported Trait: Estrogen receptor negative breast cancer OR: 1.31 [1.21, 1.43] AUROC: 0.576 [0.553, 0.598] — age, consortium/study, and top 10 principal components —
PPM022288 PGS005106
(PRSAFR_ER−)
 PSS011900|
African Ancestry|
4,814 individuals
 PGP000694 |
Jia G et al. Nat Genet (2024)
 Reported Trait: ER-negative breast cancer OR: 1.67 [1.49, 1.87] AUROC: 0.62 [0.59, 0.66] — — —
PPM023408 PGS005382
(Erneg_M1)
 PSS012171|
African Ancestry|
4,677 individuals
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Reported Trait: estrogen-receptor nagetive breast cancer risk OR: 1.49 [1.38, 1.61] AUROC: 0.611 [0.591, 0.632] — — —
PPM023420 PGS005382
(Erneg_M1)
 PSS012172|
African Ancestry|
6,458 individuals
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Reported Trait: estrogen-receptor nagetive breast cancer risk — AUROC: 0.605 [0.555, 0.657] — — —
PPM023409 PGS005383
(Erneg_M2)
 PSS012171|
African Ancestry|
4,677 individuals
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Reported Trait: estrogen-receptor negative breast cancer risk OR: 1.46 [1.36, 1.58] AUROC: 0.603 [0.582, 0.626] — — —
PPM023421 PGS005383
(Erneg_M2)
 PSS012172|
African Ancestry|
6,458 individuals
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Reported Trait: estrogen-receptor negative breast cancer risk — AUROC: 0.581 [0.53, 0.632] — — —
PPM023410 PGS005384
(TNBC_M1)
 PSS012170|
African Ancestry|
4,285 individuals
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Reported Trait: triple negative breast cancer risk OR: 1.65 [1.5, 1.82] AUROC: 0.639 [0.613 - 0.665 — — —
PPM023422 PGS005384
(TNBC_M1)
 PSS012169|
African Ancestry|
3,112 individuals
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Reported Trait: triple negative breast cancer risk — AUROC: 0.652 [0.596, 0.709] — — —
PPM023411 PGS005385
(TNBC_M2)
 PSS012170|
African Ancestry|
4,285 individuals
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Reported Trait: triple negative breast cancer risk OR: 1.6 [1.46, 1.7] AUROC: 0.63 [0.606, 0.656] — — —
PPM023423 PGS005385
(TNBC_M2)
 PSS012169|
African Ancestry|
3,112 individuals
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Reported Trait: triple negative breast cancer risk — AUROC: 0.616 [0.56, 0.671] — — —
PPM023412 PGS005386
(TNBC_162_M1)
 PSS012170|
African Ancestry|
4,285 individuals
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Reported Trait: triple negative breast cancer risk OR: 1.58 [1.44, 1.75] AUROC: 0.626 [0.6, 0.652] — — —
PPM023424 PGS005386
(TNBC_162_M1)
 PSS012169|
African Ancestry|
3,112 individuals
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Reported Trait: triple negative breast cancer risk — AUROC: 0.655 [0.594, 0.715] — — —
PPM023413 PGS005387
(TNBC_162_M2)
 PSS012170|
African Ancestry|
4,285 individuals
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Reported Trait: triple negative breast cancer risk OR: 1.6 [1.45, 1.76] AUROC: 0.628 [0.601, 0.651] — — —
PPM023425 PGS005387
(TNBC_162_M2)
 PSS012169|
African Ancestry|
3,112 individuals
 PGP000774 |
Li JL et al. Nat Genet (2026)
 Reported Trait: triple negative breast cancer risk — AUROC: 0.642 [0.585, 0.701] — — —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
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
PSS009919 — — 2,559 individuals,
0.0 % Male samples
 Mean = 54.0 years
Sd = 8.4 years		 Not reported — NR AMDTSS
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
PSS011529 — —
[
  • 26,798 cases
  • , 26,127 controls
]
,
0.0 % Male samples
 — European — 11 cohorts
  • CPS
  • ,CPSII
  • ,CTS
  • ,MCBCS
  • ,MEC
  • ,MMHS
  • ,NHS
  • ,SISTER
  • ,WCHS
  • ,WHI
  • ,WWHS
 —
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
PSS009925 — — 295 individuals,
0.0 % Male samples
 — Not reported — IARC —
PSS011900 — —
[
  • 617 cases
  • , 4,197 controls
]
,
0.0 % Male samples
 — African American or Afro-Caribbean — AABCG —
PSS000521 — —
[
  • 9,473 cases
  • , 9,462 controls
]
,
0.0 % Male samples
 — European — 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
 —
PSS000522 — —
[
  • 3,263 cases
  • , 10,138 controls
]
,
0.0 % Male samples
 — European — 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
 —
PSS000523 — —
[
  • 1,025 cases
  • , 12,376 controls
]
,
0.0 % Male samples
 — European — 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
 —
PSS000525 — —
[
  • 6,332 cases
  • , 6,007 controls
]
,
0.0 % Male samples
 — European — 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
 —
PSS000526 — —
[
  • 703 cases
  • , 8,049 controls
]
,
0.0 % Male samples
 — European — 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
 —
PSS000527 — —
[
  • 2,312 cases
  • , 6,440 controls
]
,
0.0 % Male samples
 — European — 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
 —
PSS000529 Eligibility was restricted to female BRCA1 and BRCA2 carriers who at completion of the baseline questionnaire were free of any cancer diagnosis (excluding non-melanoma skin cancer) and had not undergone risk-reducing bilateral mastectomy. Participants diagosed with a first breast cancer were considered affected. —
[
  • 297 cases
  • , 1,791 controls
]
,
0.0 % Male samples
 — European — 61 cohorts
  • BCFR
  • ,BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,IBCCS
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
 —
PSS000484 Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. Median = 8.4 years
[
  • 1,027 cases
  • , 55,041 controls
]
,
0.0 % Male samples
 Median (Age At Diagnosis) = 56.0 years European — 42 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
  • ,kConFab
  • ,pKARMA
 —
PSS000486 Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. Median = 8.4 years
[
  • 923 cases
  • , 55,145 controls
]
,
0.0 % Male samples
 Median (Age At Diagnosis) = 56.0 years European — 42 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
  • ,kConFab
  • ,pKARMA
 —
PSS000974 Cases are individuals with breast cancer. 1380 of these are male breast cancer cases and 1671 are female breast cancer cases —
[
  • 3,051 cases
  • , 2,663 controls
]
,
48.07 % Male samples
 — European — B58C, COH, UK-BCN-MBCS, UKBGS Additional male breast cancer cases were recruited from the University of Leeds, the University of Cambridge.
PSS012171 — —
[
  • 917 cases
  • , 3,760 controls
]
,
0.0 % Male samples
 — African American or Afro-Caribbean
(African)		 — 6 cohorts
  • AABC
  • ,AABCG
  • ,AMBER
  • ,BCAC
  • ,GBHS
  • ,ROOT
 —
PSS000995 Cases are women with breast cancer. Of the 4414 breast cancer cases, 2470 were ER-positive and 1372 were ER-negative. —
[
  • 4,414 cases
  • , 5,128 controls
]
,
0.0 % Male samples
 — African American or Afro-Caribbean — 10 cohorts
  • BWHS
  • ,CARE
  • ,CBCS
  • ,MEC
  • ,NBHS
  • ,NC-BCFR
  • ,PLCO
  • ,SFBCS
  • ,WCHS
  • ,WFBC
 All cohorts part of African American Breast Cancer (AABC) consortium and/or The African American Breast Cancer Epidemiology and Risk (AMBER)consortium.
PSS000995 Cases are women with breast cancer. Of the 3928 breast cancer cases, 1533 were ER-positive and 987 were ER-negative. —
[
  • 3,928 cases
  • , 3,435 controls
]
,
0.0 % Male samples
 Mean = 47.71 years African American or Afro-Caribbean, Sub-Saharan African, African unspecified — 15 cohorts
  • 2SISTER
  • ,BBCS
  • ,BNCS
  • ,CCPS
  • ,MEC
  • ,NBHS
  • ,NC-BCFR
  • ,NCBCS
  • ,NigBCS
  • ,PLCO
  • ,RVGBC
  • ,SCCS
  • ,SISTER
  • ,USRT
  • ,WAABCS
 All cohorts part of The GAME-ON OncoArray Consortium or The GWAS of Breast Cancer in the African Diaspora Consortium (ROOT)
PSS000995 Cases are women with breast cancer. Of the 899 breast cancer cases, 296 were ER-positive and 277 were ER-negative. —
[
  • 899 cases
  • , 1,630 controls
]
,
0.0 % Male samples
 — Sub-Saharan African — GBHS —
PSS011672 The molecular intrinsic subtypes of breast cancer were determined following the strategy of Giovanni's work using the PAM50 classifier in the TCGA-BRCA. Basal-like and luminal-like breast cancer were determined by PAM50. —
[
  • 108 cases
  • , 565 controls
]
 — European — TCGA —
PSS011672 Triple-negative breast cancer (TNBC) was defined as ER negative, PR negative and HER2 negative. The luminal breast cancer was defined as ER and/or PR positive. —
[
  • 2,321 cases
  • , 6,874 controls
]
 — African American or Afro-Caribbean — AABCG —
PSS011673 — —
[
  • 2,702 cases
  • , 3,119 controls
]
 Mean = 52.7 years
Sd = 12.7 years		 African American or Afro-Caribbean
(African American, African, and African Barbadian)		 — AABC, AMBER, BCAC, GBHS, ROOT —
PSS000493 — —
[
  • 4,764 cases
  • , 16,483 controls
]
,
0.0 % Male samples
 — Asian unspecified — 10 cohorts
  • ACP
  • ,HERPACC
  • ,HKBCS
  • ,KOHBRA
  • ,MYBRCA
  • ,NagBCS
  • ,SBCGS
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
 —
PSS000495 — —
[
  • 1,365 cases
  • , 5,156 controls
]
,
0.0 % Male samples
 — East Asian
(Chinese)		 — MYBRCA, SGBCC —
PSS000495 — —
[
  • 336 cases
  • , 1,332 controls
]
,
0.0 % Male samples
 — South East Asian
(Malay)		 — MYBRCA, SGBCC —
PSS000495 — —
[
  • 184 cases
  • , 1,018 controls
]
,
0.0 % Male samples
 — South Asian
(Indian)		 — MYBRCA, SGBCC —
PSS003582 All individuals were BRCA2 carriers. BRCA2 pathogenic variants were categorized according to their known or predicted effect on protein function: “class I” included loss-of-function variants expected to yield unstable or no protein; “class II” included variants likely to produce stable mutant proteins. Pathology data were obtained from pathology reviews, medical, pathology or tumor registry records, or immunohistochemical staining of tissue microarrays. All cases were individuals with breast cancer. —
[
  • 244 cases
  • , 933 controls
]
,
100.0 % Male samples
 — European — 35 cohorts
  • BCFR
  • ,BCFR-CA
  • ,BCFR-UT
  • ,BRICOH
  • ,CNIO
  • ,CONSIT_TEAM
  • ,DEMOKRITOS
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HVH
  • ,ICO
  • ,ILUH
  • ,IOVHBOCS
  • ,IPOBCS
  • ,MAYO
  • ,MSKCC
  • ,MUV
  • ,NCI
  • ,OCGN
  • ,OSUCCG
  • ,OUH
  • ,PBCS
  • ,SWE-BRCA
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,kConFab
 Additional controls were obtained from UCHICAGO
PSS000498 — —
[
  • 280 cases
  • , 1,212 controls
]
 — Asian unspecified — CanBCS, LAABC, NC-BCFR —
PSS012169 — —
[
  • 101 cases
  • , 3,011 controls
]
,
0.0 % Male samples
 — African American or Afro-Caribbean
(African)		 — BEST_Florida, BioVU, WFBC —
PSS000070 BRCA1 mutation carriers were followed until breast or ovarian cancer diagnosis, bilateral prophylactic mastectomy, or age at last observation whichever occurred first. —
[
  • 7,797 cases
  • , 7,455 controls
]
,
0.0 % Male samples
 — European Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry CIMBA Median censoring age (cases) = 40
PSS000071 BRCA2 mutation carriers were followed until breast or ovarian cancer diagnosis, bilateral prophylactic mastectomy, or age at last observation whichever occurred first. —
[
  • 4,330 cases
  • , 3,881 controls
]
,
0.0 % Male samples
 — European Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry CIMBA Median censoring age (cases) = 43
PSS012172 — —
[
  • 281 cases
  • , 3,011 controls
]
,
0.0 % Male samples
 — African American or Afro-Caribbean
(African)		 — BEST_Florida, BioVU, WFBC —
PSS012172 — —
[
  • 155 cases
  • , 3,011 controls
]
,
0.0 % Male samples
 — African American or Afro-Caribbean
(African)		 — BEST_Florida, BioVU, WFBC —
PSS012170 — —
[
  • 525 cases
  • , 3,760 controls
]
,
0.0 % Male samples
 — African American or Afro-Caribbean
(African)		 — 6 cohorts
  • AABC
  • ,AABCG
  • ,AMBER
  • ,BCAC
  • ,GBHS
  • ,ROOT
 —
PSS000074 Breast and prostate cancer cases were defined on the basis of age at diagnosis, whichever occurred first. If breast and prostate cancer occurred at the same time, individuals were treated as patients with breast cancer. —
[
  • 277 cases
  • , 1,313 controls
]
,
100.0 % Male samples
 — European Self-reported European ancestry 37 cohorts
  • BCFR
  • ,BFBOCC
  • ,BRICOH
  • ,CBCS
  • ,CIMBA
  • ,CNIO
  • ,CONSIT
  • ,Chicago
  • ,DEMOKRITOS
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HVH
  • ,ICO
  • ,ILUH
  • ,IOVHBOCS
  • ,IPOBCS
  • ,MAYO
  • ,MSKCC
  • ,MUV
  • ,NCI
  • ,OCGN
  • ,OSU
  • ,OUH
  • ,PBCS
  • ,SWE-BRCA
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,kConFab
 —