Polygenic Score (PGS) ID: PGS000004

Predicted Trait
Reported Trait Breast Cancer
Mapped Trait(s) breast carcinoma (EFO_0000305)
Released in PGS Catalog: Oct. 14, 2019
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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_BC
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%
158,648 individuals (100%)
Score Development/Training
European: 100%
10,444 individuals (100%)
PGS Evaluation
European: 79.1%
Not Reported: 4.7%
Additional Asian Ancestries: 4.7%
Multi-ancestry (including European): 4.7%
  • European
  • African
  • Additional Asian Ancestries
  • Not Reported
African: 2.3%
Hispanic or Latin American: 2.3%
Multi-ancestry (excluding European): 2.3%
  • African
43 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
[
  • 88,916 cases
  • , 69,732 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
[
  • 5,159 cases
  • , 5,285 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
Invasive breast cancer-affected 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
PPM000005 PSS000007|
European Ancestry|
190,040 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Reported Trait: Incident breast cancer cases HR: 1.59 [1.54, 1.64] study, genetic PCs 1-15 Included only 306 of the 313 SNPs
PPM000004 PSS000004|
European Ancestry|
29,751 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Reported Trait: Invasive breast cancer OR: 1.61 [1.57, 1.65] AUROC: 0.63 study, genetic PCs 1-15
PPM000940 PSS000482|
European Ancestry|
84,607 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.39 [1.13, 1.7] Age, country, PCs (1-10)
PPM000938 PSS000482|
European Ancestry|
84,607 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.3 [1.26, 1.35] Age, country
PPM001345 PSS000450|
European Ancestry|
122,978 individuals
PGP000102 |
Mars N et al. Nat Commun (2020)
|Ext.
Reported Trait: Breast cancer HR: 1.55 [1.52, 1.58] 10 ancestry PCs, batch, age as time scale 260/313 variants in the PRS are polymorphic in FinnGen
PPM000958 PSS000483|
European Ancestry|
143,830 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.67 [1.59, 1.76] Age, country, PCs (1-10)
PPM000954 PSS000485|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Estrogen-receptor positive metachronous invasive contralateral breast cancer HR: 1.38 [1.23, 1.55] Country
PPM000957 PSS000482|
European Ancestry|
84,607 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.39 [1.13, 1.7] Age, country, PCs (1-10)
PPM000959 PSS000481|
Additional Asian Ancestries|
12,473 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.15 [1.02, 1.29] Age, country
PPM000955 PSS000482|
European Ancestry|
84,607 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.3 [1.26, 1.35] Age, country
PPM001347 PSS000450|
European Ancestry|
122,978 individuals
PGP000102 |
Mars N et al. Nat Commun (2020)
|Ext.
Reported Trait: Breast cancer OR: 1.61 [1.57, 1.64] Age, 10 ancestry PCs, batch 260/313 variants in the PRS are polymorphic in FinnGen
PPM000953 PSS000486|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.24 [1.16, 1.32] Country
PPM000951 PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer HR: 1.25 [1.18, 1.33] C-index: 0.563 [0.547, 0.586] Country
PPM000941 PSS000483|
European Ancestry|
143,830 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.67 [1.59, 1.76] Age, country, PCs (1-10)
PPM000942 PSS000481|
Additional Asian Ancestries|
12,473 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Contralateral breast cancer OR: 1.15 [1.02, 1.29] Age, country
PPM000960 PSS000480|
Additional Asian Ancestries|
25,531 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.56 [1.52, 1.6] Age, country
PPM000956 PSS000483|
European Ancestry|
143,830 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.82 [1.8, 1.84] Age, country
PPM000943 PSS000480|
Additional Asian Ancestries|
25,531 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.56 [1.52, 1.6] Age, country
PPM000937 PSS000485|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Estrogen-receptor positive metachronous invasive contralateral breast cancer HR: 1.38 [1.23, 1.55] Country
PPM000936 PSS000486|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.24 [1.16, 1.32] Country
PPM000935 PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer C-index: 0.623 [0.591, 0.629] Country, age at first diagnosis, year of first diagnosis, family history for breast cancer in a first degree relative, clinical characteristics of the first breast cancer (nodal status, tumor size, differentiation grade, morphology, estrogen receptor status, human epidermal growth factor receptor 2 status, chemotherapy, endocrine therapy, radiotherapy)
PPM000934 PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer HR: 1.25 [1.18, 1.33] C-index: 0.563 [0.547, 0.586] Country
PPM000952 PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer C-index: 0.623 [0.591, 0.629] Country, age at first diagnosis, year of first diagnosis, family history for breast cancer in a first degree relative, clinical characteristics of the first breast cancer (nodal status, tumor size, differentiation grade, morphology, estrogen receptor status, human epidermal growth factor receptor 2 status, chemotherapy, endocrine therapy, radiotherapy)
PPM000939 PSS000483|
European Ancestry|
143,830 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Unilateral breast cancer OR: 1.82 [1.8, 1.84] Age, country
PPM001012 PSS000521|
European Ancestry|
18,935 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Breast cancer in BRCA1 carriers HR: 1.2 [1.17, 1.23] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001013 PSS000525|
European Ancestry|
12,339 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Breast cancer in BRCA2 carriers HR: 1.31 [1.26, 1.36] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001014 PSS000522|
European Ancestry|
13,401 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER negative breast cancer in BRCA1 carriers HR: 1.09 [1.05, 1.13] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001015 PSS000526|
European Ancestry|
8,752 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER negative breast cancer in BRCA2 carriers HR: 1.19 [1.1, 1.29] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001016 PSS000523|
European Ancestry|
13,401 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER positive breast cancer in BRCA1 carriers HR: 1.44 [1.35, 1.54] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001017 PSS000527|
European Ancestry|
8,752 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER positive breast cancer in BRCA2 carriers HR: 1.36 [1.3, 1.43] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001035 PSS000531|
European Ancestry|
1,757 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Incidient breast cancer in BRCA2 carriers HR: 1.36 [1.17, 1.57] family history of the appropriate cancer in first- and second-degree relatives
PPM000662 PSS000363|
European Ancestry|
22,821 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (triple negative) OR: 1.38 [1.31, 1.44] AUROC: 0.5877
PPM000659 PSS000359|
European Ancestry|
21,533 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (HER2-enriched-like) OR: 1.49 [1.38, 1.6] AUROC: 0.6093
PPM000656 PSS000362|
European Ancestry|
22,497 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (luminal B-like) OR: 1.68 [1.6, 1.77] AUROC: 0.6432
PPM000653 PSS000361|
European Ancestry|
22,594 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) OR: 1.62 [1.55, 1.71] AUROC: 0.6336
PPM000650 PSS000360|
European Ancestry|
28,140 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
|Ext.
Reported Trait: Breast cancer intrinsic-like subtype (luminal A-like) OR: 1.8 [1.75, 1.86] AUROC: 0.6573
PPM001646 PSS000854|
European Ancestry|
400,812 individuals
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
|Ext.
Reported Trait: Incident breast cancer AUROC: 0.628 [0.62, 0.637] Genotyping array Missing 25 variants (8%) based on availability of variants in the cohort
PPM001647 PSS000854|
European Ancestry|
400,812 individuals
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
|Ext.
Reported Trait: Incident breast cancer AUROC: 0.633 [0.624, 0.641] family history of cancer (in first-degree relatives), genotyping array Missing 25 variants (8%) based on availability of variants in the cohort
PPM001945 PSS000974|
European Ancestry|
5,714 individuals
PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer in males OR: 1.55 [1.45, 1.66] Odds Ratio (OR, top 20% vs. bottom 20%): 3.86 [3.07, 4.87]
PPM001946 PSS000974|
European Ancestry|
5,714 individuals
PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer in females OR: 1.51 [1.42, 1.61] Odds Ratio (OR, top 20% vs. bottom 20%): 3.38 [2.74, 4.18]
PPM001958 PSS000979|
Multi-ancestry (including European)|
19,264 individuals
PGP000171 |
Fahed AC et al. Nat Commun (2020)
|Ext.
Reported Trait: Breast cancer in carriers of a hereditary breast and ovarian cancer variant OR: 1.44 [1.19, 1.74] Odds Ratio (OR, top 20% vs bottom 20%): 3.04 [1.61, 5.73] Age, PCs (1-4)
PPM001959 PSS000979|
Multi-ancestry (including European)|
19,264 individuals
PGP000171 |
Fahed AC et al. Nat Commun (2020)
|Ext.
Reported Trait: Breast cancer in non-carriers of a hereditary breast and ovarian cancer variant OR: 1.57 [1.49, 1.65] Age, PCs (1-4)
PPM001960 PSS000980|
Multi-ancestry (including European)|
26,595 individuals
PGP000171 |
Fahed AC et al. Nat Commun (2020)
|Ext.
Reported Trait: Prevalent breast cancer OR: 1.61 [1.52, 1.7] Age, PCs (1-4)
PPM001999 PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer OR: 1.27 [1.23, 1.31] Odds Ratio (OR, top 10% vs. middle 20%): 1.54 [1.38, 1.72] Age, study, PCs(1-10) Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies.
PPM002000 PSS000995|
Multi-ancestry (excluding European)|
19,434 individuals
PGP000179 |
Du Z et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer AUROC: 0.571 [0.562, 0.579] Study, PCs(1-10) Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies.
PPM005118 PSS003581|
European Ancestry|
413 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male breast cancer in BRCA1 carriers OR: 1.4 [1.06, 1.85] PCs(1-3)
PPM005148 PSS003595|
European Ancestry|
6,339 individuals
PGP000247 |
Lacaze P et al. Cancers (Basel) (2021)
|Ext.
Reported Trait: Incident invasive estrogen receptor postivie/progesterone receptor positive breast cancer HR: 1.53 [1.22, 1.91] Family history of breast cancer (first-degree blood relatives), treatment (asprin/placebo), age at enrolment, number of children, alcohol use, body mass index at enrolment, use of hormone replacement therapy at enrolment Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3).
PPM005150 PSS003595|
European Ancestry|
6,339 individuals
PGP000247 |
Lacaze P et al. Cancers (Basel) (2021)
|Ext.
Reported Trait: Diagnosis of prevalent invasive breast cancer before the age of 50 OR: 1.39 [1.08, 1.8] Family history of breast cancer (first-degree blood relatives) Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3).
PPM005151 PSS003595|
European Ancestry|
6,339 individuals
PGP000247 |
Lacaze P et al. Cancers (Basel) (2021)
|Ext.
Reported Trait: Diagnosis of prevalent invasive breast cancer at the age of 50 or over OR: 1.47 [1.33, 1.63] Family history of breast cancer (first-degree blood relatives) Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3).
PPM005159 PSS003599|
European Ancestry|
33,954 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer OR: 1.4 [1.35, 1.45] Age, family history, study site, 3 ancestry-specific PCs
PPM005162 PSS003598|
African Ancestry|
3,801 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer OR: 1.26 [1.1, 1.44] Age, family history, study site, 3 ancestry-specific PCs
PPM005165 PSS003600|
Hispanic or Latin American Ancestry|
2,196 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer OR: 1.3 [1.08, 1.57] Age, family history, study site, 3 ancestry-specific PCs
PPM005168 PSS003599|
European Ancestry|
33,954 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer AUROC: 0.6 [0.59, 0.61] : 0.025
PPM005171 PSS003598|
African Ancestry|
3,801 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer AUROC: 0.55 [0.51, 0.58] : 0.0003
PPM005174 PSS003600|
Hispanic or Latin American Ancestry|
2,196 individuals
PGP000249 |
Liu C et al. JAMA Netw Open (2021)
|Ext.
Reported Trait: Breast cancer AUROC: 0.55 [0.5, 0.6] : 0.0008
PPM005119 PSS003581|
European Ancestry|
413 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male breast cancer in BRCA1 carriers OR: 1.39 [1.05, 1.84] PCs(1-3), family history of male breast cancer in first and second degree relatives
PPM005120 PSS003581|
European Ancestry|
413 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male breast cancer in BRCA1 carriers OR: 1.44 [1.07, 1.95] PCs(1-3), family history of female breast cancer in first and second degree relatives
PPM005121 PSS003582|
European Ancestry|
1,177 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male breast cancer in BRCA2 carriers OR: 1.32 [1.15, 1.52] PCs(1-3)
PPM005122 PSS003582|
European Ancestry|
1,177 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male breast cancer in BRCA2 carriers OR: 1.33 [1.15, 1.52] PCs(1-3), family history of male breast cancer in first and second degree relatives
PPM005123 PSS003582|
European Ancestry|
1,177 individuals
PGP000245 |
Barnes DR et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Male breast cancer in BRCA2 carriers OR: 1.36 [1.18, 1.57] PCs(1-3), family history of female breast cancer in first and second degree relatives
PPM005147 PSS003595|
European Ancestry|
6,339 individuals
PGP000247 |
Lacaze P et al. Cancers (Basel) (2021)
|Ext.
Reported Trait: Incident invasive breast cancer HR: 1.43 [1.18, 1.73] C-index: 0.65 [0.59, 0.71] Hazard Ratio (HR, top 20% vs bottom 20%): 2.16 [1.21, 3.86] Family history of breast cancer (first-degree blood relatives), treatment (asprin/placebo), age at enrolment, number of children, alcohol use, body mass index at enrolment, use of hormone replacement therapy at enrolment Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3).
PPM005149 PSS003595|
European Ancestry|
6,339 individuals
PGP000247 |
Lacaze P et al. Cancers (Basel) (2021)
|Ext.
Reported Trait: Prevalent invasive breast cancer OR: 1.47 [1.34, 1.61] AUROC: 0.62 [0.59, 0.65] Odds Ratio (OR, top 20% vs bottom 20%): 3.16 [2.26, 4.49] Family history of breast cancer (first-degree blood relatives), pathogenic variants in breast cancer-associated genes Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3).
PPM012885 PSS009592|
Ancestry Not Reported|
5,023 individuals
PGP000292 |
Saad M et al. Lancet Oncol (2022)
|Ext.
Reported Trait: Breast cancer OR: 1.432 [1.333, 1.538] AUROC: 0.6 [0.581, 0.62]
PPM012909 PSS009609|
European Ancestry|
54,949 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: Incident primary breast cancer AUROC: 0.631 [0.61, 0.651] Calibration (E/O): 0.9 [0.7, 1.0]
PPM012910 PSS009610|
European Ancestry|
238,663 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: Incident primary breast cancer AUROC: 0.622 [0.614, 0.63] Calibration (E/O): 1.0 [0.7, 1.3]
PPM012912 PSS009610|
European Ancestry|
238,663 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: Incident primary breast cancer AUROC: 0.64 [0.632, 0.647] iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM012913 PSS009611|
European Ancestry|
302,425 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: 5-year absolute risk breast cancer (>3%) AUROC: 0.668 iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM012914 PSS009612|
European Ancestry|
840,867 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: 5-year absolute risk breast cancer (>3%) AUROC: 0.664 iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM012915 PSS009613|
European Ancestry|
408,679 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: 5-year absolute risk breast cancer (>3%) AUROC: 0.666 iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM012916 PSS009614|
European Ancestry|
188,453 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: 5-year absolute risk breast cancer (>3%) AUROC: 0.661 iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM012917 PSS009615|
European Ancestry|
1,401,091 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: 5-year absolute risk breast cancer (>3%) AUROC: 0.664 iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM012918 PSS009616|
European Ancestry|
5,328,392 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: 5-year absolute risk breast cancer (>3%) AUROC: 0.665 iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM012911 PSS009609|
European Ancestry|
54,949 individuals
PGP000297 |
Hurson AN et al. Int J Epidemiol (2022)
|Ext.
Reported Trait: Incident primary breast cancer AUROC: 0.64 [0.62, 0.66] iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease)
PPM014886 PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Cumulus Mammogram Risk Scores β: 0.061 [0.017, 0.105] first 10 principal components
PPM014887 PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Cumulus percent Mammogram Risk Scores β: 0.06 [0.016, 0.104] first 10 principal components
PPM014888 PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Altocumulus Mammogram Risk Scores β: 0.081 [0.037, 0.125] first 10 principal components
PPM014889 PSS009919|
Ancestry Not Reported|
2,559 individuals
PGP000351 |
Li S et al. Cancers (Basel) (2022)
|Ext.
Reported Trait: Cirrocumulus Mammogram Risk Scores β: 0.058 [0.016, 0.101] first 10 principal components

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
PSS000450 Breast cancer cases were identified through the Finnish Cancer Registry with diagnosis C50 (International Classification of Diseases for Oncology, 3rd Edition; ICD-O-3), from the drug reimbursement registry by selecting individuals with a reimbursement code for breast cancer, and from the death registry with ICD-10 C50.
[
  • 8,401 cases
  • , 114,577 controls
]
,
0.0 % Male samples
Mean Age (At The End Of Follow-Up) = 58.5 years
IQR = [45.1, 72.2] years
European
(Finnish)
FinnGen
PSS003595 Cases were individuals with invasive breast cancer. Of the 585 cases, 475 were individuals with prevalent invasive breast cancer whilst 110 were individuals with incident invasive breast cancer. Incident invasive breast cancer was adjudicated by an expert panel using histopathology, metastasis imaging or other clinical evidence. Histopathology was available for 103 of the 110 individuals with incident invasive breast cancer. Of the 103 individuals, 74 had incident invasive estrogren receptor postivie/progesterone receptor positive breast cancer. Age at diagnosis of prevalent invasive breast cancer was self-reported as before or after 50 years. Of the 475 individuals with prevalent invasive breast cancer 60 had been diagnosed before the age of 50, whilst the remaining 415 had been diagnosed at age 50 or over. Median = 4.7 years
IQR = [3.65, 5.75] years
[
  • 585 cases
  • , 5,754 controls
]
,
0.0 % Male samples
Mean = 75.1 years European ASPREE
PSS003598 Cases were individuals with breast cancer. Breast cancer cases were defined by at least one occurrence of the following ICD10CM female breast cancer diagnostic codes: C50.01, C50.011, C50.012, C50.019, C50.1, C50.11, C50.111, C50.112, C50.119, C50.2, C50.21, C50.211, C50.212, C50.219, C50.3, C50.31, C50.311, C50.312, C50.319, C50.4, C50.41, C50.411, C50.412, C50.419, C50.5, C50.51, C50.511, C50.512, C50.519, C50.6, C50.61, C50.611, C50.612, C50.619, C50.81, C50.811, C50.812, C50.819, C50.91, C50.911, C50.912, C50.919, D05, D05.1, D05.10, D05.11, D05.12, D05.8, D05.81, D05.82, D05.9, D05.90, D05.91, D05.92, Z85.3,Z86.000 and ICD9CM female breast cancer diagnostic codes: 174, 174, 174.1, 174.2, 174.3, 174.4, 174.5, 174.6, 174.8, 174.9, 233, V10.3. Alternatively breast cancer cases were defined by at least two occurrences (from distinct calendar days) of breast cancer history from the following ICD10CM codes: Z85.3, Z86.000 and ICD9CM code: V10.3, if she had no breast cancer diagnostic codes.
[
  • 274 cases
  • , 3,527 controls
]
,
0.0 % Male samples
Mean = 59.6 years
Sd = 16.5 years
African unspecified eMERGE
PSS003599 Cases were individuals with breast cancer. Breast cancer cases were defined by at least one occurrence of the following ICD10CM female breast cancer diagnostic codes: C50.01, C50.011, C50.012, C50.019, C50.1, C50.11, C50.111, C50.112, C50.119, C50.2, C50.21, C50.211, C50.212, C50.219, C50.3, C50.31, C50.311, C50.312, C50.319, C50.4, C50.41, C50.411, C50.412, C50.419, C50.5, C50.51, C50.511, C50.512, C50.519, C50.6, C50.61, C50.611, C50.612, C50.619, C50.81, C50.811, C50.812, C50.819, C50.91, C50.911, C50.912, C50.919, D05, D05.1, D05.10, D05.11, D05.12, D05.8, D05.81, D05.82, D05.9, D05.90, D05.91, D05.92, Z85.3,Z86.000 and ICD9CM female breast cancer diagnostic codes: 174, 174, 174.1, 174.2, 174.3, 174.4, 174.5, 174.6, 174.8, 174.9, 233, V10.3. Alternatively breast cancer cases were defined by at least two occurrences (from distinct calendar days) of breast cancer history from the following ICD10CM codes: Z85.3, Z86.000 and ICD9CM code: V10.3, if she had no breast cancer diagnostic codes.
[
  • 3,960 cases
  • , 29,994 controls
]
,
0.0 % Male samples
Mean = 66.1 years
Sd = 17.7 years
European eMERGE
PSS003600 Cases were individuals with breast cancer. Breast cancer cases were defined by at least one occurrence of the following ICD10CM female breast cancer diagnostic codes: C50.01, C50.011, C50.012, C50.019, C50.1, C50.11, C50.111, C50.112, C50.119, C50.2, C50.21, C50.211, C50.212, C50.219, C50.3, C50.31, C50.311, C50.312, C50.319, C50.4, C50.41, C50.411, C50.412, C50.419, C50.5, C50.51, C50.511, C50.512, C50.519, C50.6, C50.61, C50.611, C50.612, C50.619, C50.81, C50.811, C50.812, C50.819, C50.91, C50.911, C50.912, C50.919, D05, D05.1, D05.10, D05.11, D05.12, D05.8, D05.81, D05.82, D05.9, D05.90, D05.91, D05.92, Z85.3,Z86.000 and ICD9CM female breast cancer diagnostic codes: 174, 174, 174.1, 174.2, 174.3, 174.4, 174.5, 174.6, 174.8, 174.9, 233, V10.3. Alternatively breast cancer cases were defined by at least two occurrences (from distinct calendar days) of breast cancer history from the following ICD10CM codes: Z85.3, Z86.000 and ICD9CM code: V10.3, if she had no breast cancer diagnostic codes.
[
  • 147 cases
  • , 2,049 controls
]
,
0.0 % Male samples
Mean = 59.9 years
Sd = 19.4 years
Hispanic or Latin American eMERGE
PSS009919 2,559 individuals,
0.0 % Male samples
Mean = 54.0 years
Sd = 8.4 years
Not reported NR AMDTSS
PSS000359 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (4) HER2-enriched-like (ER- and PR-, HER2+)
[
  • 718 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
PSS000360 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (1) luminal A-like (ER+ and/or PR+, HER2-, grade 1 & 2); 
[
  • 7,325 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
PSS000361 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (2) luminal B/HER2-negative-like (ER+ and/or PR+, HER2-, grade 3)
[
  • 1,779 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
PSS000362 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (3) luminal B-like (ER+ and/or PR+, HER2+); 
[
  • 1,682 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
PSS000363 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (5) triple-negative ( ER-, PR-, HER2-). 
[
  • 2,006 cases
  • , 20,815 controls
]
,
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data
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
PSS000007 Incident registry-confirmed invasive breast cancers developed
[
  • 3,215 cases
  • , 186,825 controls
]
,
0.0 % Male samples
European UKB Prospective Test Set (UKB)
PSS000521
[
  • 9,473 cases
  • , 9,462 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000522
[
  • 3,263 cases
  • , 10,138 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000523
[
  • 1,025 cases
  • , 12,376 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000525
[
  • 6,332 cases
  • , 6,007 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000526
[
  • 703 cases
  • , 8,049 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000527
[
  • 2,312 cases
  • , 6,440 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS009592
[
  • 989 cases
  • , 4,034 controls
]
,
0.0 % Male samples
Not reported TCGA
PSS000531 Eligibility was restricted to female BRCA1 and BRCA2 carriers who at completion of the baseline questionnaire were free of any cancer diagnosis (excluding non-melanoma skin cancer) and had not undergone risk-reducing bilateral mastectomy. Participants diagosed with a first breast cancer were considered affected.
[
  • 215 cases
  • , 1,542 controls
]
,
0.0 % Male samples
European 61 cohorts
  • BCFR
  • ,BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,IBCCS
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000480 Women (European Ancestry) diagnosed with unilateral breast cancer
[
  • 12,133 cases
  • , 13,398 controls
]
,
0.0 % Male samples
Asian unspecified 8 cohorts
  • CBCS
  • ,HERPACC
  • ,HKBCS
  • ,MYBRCA
  • ,NC-BCFR
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
PSS000481 Women (Asian Ancestry) diagnosed with unilateral breast cancer or CBC. CBC was defined as breast cancer (in situ or invasive) in the contralateral breast irrespective of the time since the first breast cancer.
[
  • 340 cases
  • , 12,133 controls
]
,
0.0 % Male samples
Asian unspecified 8 cohorts
  • CBCS
  • ,HERPACC
  • ,HKBCS
  • ,MYBRCA
  • ,NC-BCFR
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
PSS000482 Women (European Ancestry) diagnosed with unilateral breast cancer or CBC. CBC was defined as breast cancer (in situ or invasive) in the contralateral breast irrespective of the time since the first breast cancer.
[
  • 3,607 cases
  • , 81,000 controls
]
,
0.0 % Male samples
European 63 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,BBCC
  • ,BBCS
  • ,BCEES
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CBCS
  • ,CCGP
  • ,CGPS
  • ,CNIO-BCS
  • ,DIETCOMPLYF
  • ,FHRISK
  • ,GC-HBOC
  • ,GENICA
  • ,GESBC
  • ,GLACIER
  • ,HABCS
  • ,HCSC
  • ,HEBCS
  • ,HMBCS
  • ,HUBCS
  • ,ICICLE
  • ,KARBAC
  • ,KARMA
  • ,KBCP
  • ,KCONFAB/AOCS
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MISS
  • ,MMHS
  • ,NBCS
  • ,NC-BCFR
  • ,NCBRCS
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PREFACE
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SUCCESSB
  • ,SUCCESSC
  • ,SZBCS
  • ,TNBCC
  • ,UCIBCS
  • ,pKARMA
PSS000483 Women (European Ancestry) diagnosed with unilateral breast cancer
[
  • 81,000 cases
  • , 62,830 controls
]
,
0.0 % Male samples
European 63 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,BBCC
  • ,BBCS
  • ,BCEES
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CBCS
  • ,CCGP
  • ,CGPS
  • ,CNIO-BCS
  • ,DIETCOMPLYF
  • ,FHRISK
  • ,GC-HBOC
  • ,GENICA
  • ,GESBC
  • ,GLACIER
  • ,HABCS
  • ,HCSC
  • ,HEBCS
  • ,HMBCS
  • ,HUBCS
  • ,ICICLE
  • ,KARBAC
  • ,KARMA
  • ,KBCP
  • ,KCONFAB/AOCS
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MISS
  • ,MMHS
  • ,NC-BCFR
  • ,NCBCS
  • ,NorBCS
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PREFACE
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SUCCESSB
  • ,SUCCESSC
  • ,SZBCS
  • ,TNBCC
  • ,UCIBCS
  • ,pKARMA
PSS000484 Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. Median = 8.4 years
[
  • 1,027 cases
  • , 55,041 controls
]
,
0.0 % Male samples
Median (Age At Diagnosis) = 56.0 years European 42 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
  • ,kConFab
  • ,pKARMA
PSS000485 Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. Median = 8.4 years
[
  • 275 cases
  • , 55,793 controls
]
,
0.0 % Male samples
Median (Age At Diagnosis) = 56.0 years European 42 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
  • ,kConFab
  • ,pKARMA
PSS000486 Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. Median = 8.4 years
[
  • 923 cases
  • , 55,145 controls
]
,
0.0 % Male samples
Median (Age At Diagnosis) = 56.0 years European 42 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
  • ,kConFab
  • ,pKARMA
PSS000854 Data and diagnoses on site-specific incident cancers were provided by the National Health Service Information Centre for participants from England and Wales (follow-up through March 31, 2016) and by the NHS Central Register Scotland for participants from Scotland (follow-up through October 31, 2015). Cancers were coded by the International Classification of Diseases, Ninth Revision (ICD-9) or the International Classification of Diseases, Tenth Revision (ICD-10). Breast cancer=(ICD-9 = 174 or ICD-10 = C50). Median = 5.8 years
[
  • 4,340 cases
  • , 396,472 controls
]
,
46.5 % Male samples
European UKB
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.
PSS000979 Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer.
[
  • 1,375 cases
  • , 12,365 controls
]
,
0.0 % Male samples
European CG
PSS000979 Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer.
[
  • 30 cases
  • , 410 controls
]
,
0.0 % Male samples
African unspecified CG
PSS000979 Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer.
[
  • 83 cases
  • , 695 controls
]
,
0.0 % Male samples
Asian unspecified CG
PSS000979 Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer.
[
  • 432 cases
  • , 3,874 controls
]
,
0.0 % Male samples
Not reported CG
PSS000980 Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant.
[
  • 1,276 cases
  • , 23,442 controls
]
,
0.0 % Male samples
European UKB
PSS000980 Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant.
[
  • 12 cases
  • , 612 controls
]
,
0.0 % Male samples
African unspecified UKB
PSS000980 Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant.
[
  • 25 cases
  • , 597 controls
]
,
0.0 % Male samples
Asian unspecified UKB
PSS000980 Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant.
[
  • 24 cases
  • , 607 controls
]
,
0.0 % Male samples
Not reported UKB
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
PSS009609
[
  • 891 cases
  • , 54,058 controls
]
,
0.0 % Male samples
Range = [0.0, 50.0] years European NHS2, UKB GS
PSS009610
[
  • 5,920 cases
  • , 232,743 controls
]
,
0.0 % Male samples
Range = [50.0, 100.0] years European 9 cohorts
  • CPSII
  • ,EPIC
  • ,KARMA
  • ,MMHS
  • ,NHS
  • ,NHS2
  • ,PLCO
  • ,UKB
  • ,WGHS
GS
PSS009611 302,425 individuals,
0.0 % Male samples
Range = [50.0, 70.0] years European MCCS
PSS009612 840,867 individuals,
0.0 % Male samples
Range = [50.0, 70.0] years European EPIC
PSS009613 408,679 individuals,
0.0 % Male samples
Range = [50.0, 70.0] years European EPIC
PSS009614 188,453 individuals,
0.0 % Male samples
Range = [50.0, 70.0] years European KARMA
PSS009615 1,401,091 individuals,
0.0 % Male samples
Range = [50.0, 70.0] years European EPIC, PROCAS, UKB
PSS009616 5,328,392 individuals,
0.0 % Male samples
Range = [50.0, 70.0] years European 7 cohorts
  • CPSII
  • ,MMHS
  • ,NHS
  • ,NHS2
  • ,PLCO
  • ,SISTER
  • ,WGHS
GS
PSS003581 All individuals were BRCA1 carriers. BRCA1 pathogenic variants were categorized according to their known or predicted effect on protein function: “class I” included loss-of-function variants expected to yield unstable or no protein; “class II” included variants likely to produce stable mutant proteins. Pathology data were obtained from pathology reviews, medical, pathology or tumor registry records, or immunohistochemical staining of tissue microarrays. All cases were individuals with breast cancer.
[
  • 33 cases
  • , 380 controls
]
,
100.0 % Male samples
European 28 cohorts
  • BCFR
  • ,BCFR-CA
  • ,BCFR-UT
  • ,BFBOCC
  • ,BRICOH
  • ,CBCS
  • ,CNIO
  • ,CONSIT_TEAM
  • ,DEMOKRITOS
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,GC-HBOC
  • ,GEMO
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HVH
  • ,ICO
  • ,MAYO
  • ,MSKCC
  • ,MUV
  • ,OCGN
  • ,OSUCCG
  • ,SWE-BRCA
  • ,UPENN
  • ,VFCTG
  • ,kConFab
Additional controls were obtained from UCHICAGO
PSS003582 All individuals were BRCA2 carriers. BRCA2 pathogenic variants were categorized according to their known or predicted effect on protein function: “class I” included loss-of-function variants expected to yield unstable or no protein; “class II” included variants likely to produce stable mutant proteins. Pathology data were obtained from pathology reviews, medical, pathology or tumor registry records, or immunohistochemical staining of tissue microarrays. All cases were individuals with breast cancer.
[
  • 244 cases
  • , 933 controls
]
,
100.0 % Male samples
European 35 cohorts
  • BCFR
  • ,BCFR-CA
  • ,BCFR-UT
  • ,BRICOH
  • ,CNIO
  • ,CONSIT_TEAM
  • ,DEMOKRITOS
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HVH
  • ,ICO
  • ,ILUH
  • ,IOVHBOCS
  • ,IPOBCS
  • ,MAYO
  • ,MSKCC
  • ,MUV
  • ,NCI
  • ,OCGN
  • ,OSUCCG
  • ,OUH
  • ,PBCS
  • ,SWE-BRCA
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,kConFab
Additional controls were obtained from UCHICAGO