Polygenic Score (PGS) ID: PGS000006

Predicted Trait
Reported Trait ER-negative breast cancer
Mapped Trait(s) estrogen-receptor negative breast cancer (EFO_1000650)
Released in PGS Catalog: Oct. 14, 2019
Download Score FTP directory
Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name PRS313_ERneg
Development Method
Name Hard-Thresholding Stepwise Forward Regression
Parameters p < 10^-5
Variants
Original Genome Build GRCh37
Number of Variants 313
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000002
Citation (link to publication) Mavaddat N et al. Am J Hum Genet (2018)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
87,368 individuals (100%)
Score Development/Training
European: 100%
5,159 individuals (100%)
PGS Evaluation
European: 80%
Not Reported: 6.7%
African: 6.7%
Multi-ancestry (excluding European): 6.7%
  • African
15 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
—
[
  • 15,404 cases
  • , 71,964 controls
]
,
0.0 % Male samples
 European 68 cohorts
  • 2SISTER
  • ,ABCFS
  • ,ABCS
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BBCS
  • ,BCEES
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BCINIS
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CBCS
  • ,CCGP
  • ,CECILE
  • ,CGPS
  • ,CNIO-BCS
  • ,CPSII
  • ,CTS
  • ,DIETCOMPLYF
  • ,ESTHER
  • ,GC-HBOC
  • ,GENICA
  • ,GEPARSIXTO
  • ,GESBC
  • ,HCSC
  • ,HEBCS
  • ,HMBCS
  • ,HUOCS
  • ,KARBAC
  • ,KBCP
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MISS
  • ,MMHS
  • ,MSKCC
  • ,MTLGEBCS
  • ,NBCS
  • ,NBHS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PREFACE
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SMC
  • ,SUCCESSB
  • ,SUCCESSC
  • ,SZBCS
  • ,TNBCC
  • ,UCIBCS
  • ,UKOPS
  • ,WHI
  • ,pKARMA
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
—
[
  • 926 cases
  • , 4,233 controls
]
,
0.0 % Male samples
 European 25 cohorts
  • ABCTB
  • ,BBCC
  • ,BCEES
  • ,BCINIS
  • ,BREOGAN
  • ,CBCS
  • ,CCGP
  • ,CGPS
  • ,CPSII
  • ,CTS
  • ,GENICA
  • ,HMBCS
  • ,LMBC
  • ,MCBCS
  • ,MCCS
  • ,MISS
  • ,MMHS
  • ,NBHS
  • ,ORIGO
  • ,PBCS
  • ,SEARCH
  • ,SMC
  • ,UCIBCS
  • ,WHI
  • ,pKARMA
 ER-negative breast cancer cases — — — Validation Cohort

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) 		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
PPM000007 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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] — — —

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
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 —
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
 —
PSS011900 — —
[
  • 617 cases
  • , 4,197 controls
]
,
0.0 % Male samples
 — African American or Afro-Caribbean — AABCG —
PSS009919 — — 2,559 individuals,
0.0 % Male samples
 Mean = 54.0 years
Sd = 8.4 years		 Not reported — NR AMDTSS
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.
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)
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
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
 —
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.
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
 —
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