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: 75%
African: 5.4%
Additional Asian Ancestries: 5.4%
Multi-ancestry (including European): 5.4%
  • European
  • African
  • Additional Asian Ancestries
  • Not Reported
Not Reported: 3.6%
Hispanic or Latin American: 1.8%
East Asian: 1.8%
Multi-ancestry (excluding European): 1.8%
  • African
56 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
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) —
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
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 —
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 —
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.
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] R²: 0.0003 — —
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) —
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] R²: 0.025 — —
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 —
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] R²: 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 —
PPM015579 PSS009990|
Multi-ancestry (including European)|
207,510 individuals
 PGP000389 |
Giardiello D et al. Breast Cancer Res (2022)
|Ext.		 Reported Trait: Contralateral breast cancer — — Subdistributional hazard ratio (sHR, 75th vs. 25th quartile): 1.35 [1.31, 1.39] PredictCBC-2.0A Calculated with PredictCBC-2.0A
PPM017271 PSS010184|
European Ancestry|
200,195 individuals
 PGP000455 |
Spaeth EL et al. Cancer Prev Res (Phila) (2023)
|Ext.		 Reported Trait: breast cancer HR: 1.45 [1.4, 1.49] C-index: 0.567 [0.556, 0.577] — — —
PPM018546 PSS011015|
East Asian Ancestry|
8,001 individuals
 PGP000478 |
Ohbe H et al. Breast Cancer Res Treat (2022)
|Ext.		 Reported Trait: Incident breast cancer — C-index: 0.582 (0.018) Improvement in C-index from age-only model: 0.042
Hazard ratio (HR, high vs low tertile): 1.89 [1.25, 2.86]		 age —
PPM020279 PSS011321|
African Ancestry|
10,717 individuals
 PGP000537 |
Luoh SW et al. Health Equity (2023)
|Ext.		 Reported Trait: Incident breast cancer — AUROC: 0.579 [0.522, 0.636] — — —
PPM020280 PSS011322|
European Ancestry|
19,939 individuals
 PGP000537 |
Luoh SW et al. Health Equity (2023)
|Ext.		 Reported Trait: Incident breast cancer — AUROC: 0.622 [0.58, 0.664] — — —
PPM020422 PSS011356|
European Ancestry|
17,835 individuals
 PGP000553 |
Mao X et al. J Natl Cancer Inst (2023)
|Ext.		 Reported Trait: Incident breast cancer in women aged 40-54 years at study enrolment HR: 1.68 [1.52, 1.84] — — Age, genotyping method —
PPM020423 PSS011356|
European Ancestry|
17,835 individuals
 PGP000553 |
Mao X et al. J Natl Cancer Inst (2023)
|Ext.		 Reported Trait: Incident breast cancer in women aged 55-74 years at study enrolment HR: 1.53 [1.42, 1.65] — — Age, genotyping method —
PPM020424 PSS011356|
European Ancestry|
17,835 individuals
 PGP000553 |
Mao X et al. J Natl Cancer Inst (2023)
|Ext.		 Reported Trait: Incident breast cancer in full sisters of women aged 40-54 years at study enrolment HR: 1.27 [1.04, 1.55] — — Age, genotyping method —
PPM020425 PSS011356|
European Ancestry|
17,835 individuals
 PGP000553 |
Mao X et al. J Natl Cancer Inst (2023)
|Ext.		 Reported Trait: Incident breast cancer in full sisters of women aged 55-74 years at study enrolment HR: 1.24 [1.07, 1.44] — — Age, genotyping method —
PPM020724 PSS011385|
European Ancestry|
683 individuals
 PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.		 Reported Trait: Grade 3 tumour in females with invasive breast cancer OR: 0.8 [0.65, 0.99] — — — Reference = grade 1 tumour
PPM020725 PSS011385|
European Ancestry|
683 individuals
 PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.		 Reported Trait: ER negative status in females with invasive breast cancer OR: 0.8 [0.65, 0.99] — — — —
PPM020726 PSS011384|
Additional Asian Ancestries|
12,920 individuals
 PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.		 Reported Trait: ER negative status in females with invasive breast cancer OR: 0.86 [0.82, 0.89] — — — —
PPM020727 PSS011385|
European Ancestry|
683 individuals
 PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.		 Reported Trait: PR negative status in females with invasive breast cancer OR: 0.84 [0.71, 1.0] — — — —
PPM020728 PSS011384|
Additional Asian Ancestries|
12,920 individuals
 PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.		 Reported Trait: PR negative status in females with invasive breast cancer OR: 0.89 [0.86, 0.94] — — — —
PPM021285 PSS011678|
European Ancestry|
6,522 individuals
 PGP000625 |
Lakeman IMM et al. Genet Med (2020)
|Ext.		 Reported Trait: Incident breast cancer HR: 1.56 [1.4, 1.74] — — Age at inclusion in the Rotterdam Study —
PPM021286 PSS011678|
European Ancestry|
6,522 individuals
 PGP000625 |
Lakeman IMM et al. Genet Med (2020)
|Ext.		 Reported Trait: Incident breast cancer in women below the age of 50 HR: 2.74 [1.72, 4.37] — — Age at inclusion in the Rotterdam Study —
PPM021287 PSS011678|
European Ancestry|
6,522 individuals
 PGP000625 |
Lakeman IMM et al. Genet Med (2020)
|Ext.		 Reported Trait: Incident breast cancer in women aged between 50 and 75 HR: 1.74 [1.52, 2.0] — — Age at inclusion in the Rotterdam Study —
PPM021288 PSS011678|
European Ancestry|
6,522 individuals
 PGP000625 |
Lakeman IMM et al. Genet Med (2020)
|Ext.		 Reported Trait: Incident breast cancer in women above the age of 75 HR: 1.29 [1.08, 1.55] — — Age at inclusion in the Rotterdam Study —
PPM021289 PSS011678|
European Ancestry|
6,522 individuals
 PGP000625 |
Lakeman IMM et al. Genet Med (2020)
|Ext.		 Reported Trait: Incident invasive breast cancer HR: 1.57 [1.4, 1.77] — — Age at inclusion in the Rotterdam Study —
PPM021290 PSS011678|
European Ancestry|
6,522 individuals
 PGP000625 |
Lakeman IMM et al. Genet Med (2020)
|Ext.		 Reported Trait: Incident in situ breast cancer HR: 1.43 [1.01, 2.01] — — Age at inclusion in the Rotterdam Study —
PPM021291 PSS011678|
European Ancestry|
6,522 individuals
 PGP000625 |
Lakeman IMM et al. Genet Med (2020)
|Ext.		 Reported Trait: Incident breast cancer in women below the age of 60 — C-index: 0.632 [0.58, 0.69] — — —
PPM021292 PSS011678|
European Ancestry|
6,522 individuals
 PGP000625 |
Lakeman IMM et al. Genet Med (2020)
|Ext.		 Reported Trait: Incident breast cancer in women aged between the ages of 60 and 70 — C-index: 0.673 [0.61, 0.73] — — —
PPM021293 PSS011678|
European Ancestry|
6,522 individuals
 PGP000625 |
Lakeman IMM et al. Genet Med (2020)
|Ext.		 Reported Trait: Incident breast cancer in women aged 70 or above — C-index: 0.562 [0.48, 0.62] — — —
PPM021294 PSS011677|
European Ancestry|
4,377 individuals
 PGP000625 |
Lakeman IMM et al. Genet Med (2020)
|Ext.		 Reported Trait: Incident breast cancer — C-index: 0.636 [0.59, 0.68] — Age at inclusion in the Rotterdam Study Calculated using the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICIEA)
PPM021295 PSS011677|
European Ancestry|
4,377 individuals
 PGP000625 |
Lakeman IMM et al. Genet Med (2020)
|Ext.		 Reported Trait: Incident breast cancer — C-index: 0.653 [0.6, 0.7] — Age at inclusion in the Rotterdam Study, age at menarche, age at menopause, number of children, age at first live birth, use of oral contraception, use of hormone replacement therapy, body mass index (BMI), height, alcohol use Calculated using the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICIEA)
PPM021373 PSS011707|
European Ancestry|
110,869 individuals
 PGP000644 |
Arthur RS et al. J Natl Cancer Inst (2020)
|Ext.		 Reported Trait: Incident breast cancer in postmenopausal women HR: 2.03 [1.91, 2.16] — Hazard ratio (HR, top PRS tertile vs. bottom PRS tertile): 2.51 [2.27, 2.77] Age at recruitment, socioeconomic status, age at menarche, parity and age at first pregnancy (combined), family history of breast cancer, history of mammograms, oral contraceptive use, age at menopause, hormone replacement therapy use, 5 PCs, genotyping batch, lifestyle score Only 304 of the 313 SNPs were available for analysis
PPM021372 PSS011708|
European Ancestry|
35,457 individuals
 PGP000644 |
Arthur RS et al. J Natl Cancer Inst (2020)
|Ext.		 Reported Trait: Incident breast cancer in premenopausal women HR: 2.14 [1.89, 2.42] — Hazard ratio (HR, top PRS tertile vs. bottom PRS tertile): 2.64 [2.17, 3.22] Age at recruitment, socioeconomic status, age at menarche, parity and age at first pregnancy (combined), family history of breast cancer, history of mammograms, oral contraceptive use, BMI, 5 PCs, genotyping batch, lifestyle score Only 304 of the 313 SNPs were available for analysis
PPM022285 PSS011899|
African Ancestry|
7,096 individuals
 PGP000694 |
Jia G et al. Nat Genet (2024)
|Ext.		 Reported Trait: Breast cancer OR: 1.31 [1.24, 1.4] AUROC: 0.58 [0.56, 0.6] — Age, study, genotyping array, 5 PCs —

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
PSS011384 — — 12,920 individuals,
0.0 % Male samples
 Mean = 50.9 years
Sd = 11.1 years		 Asian unspecified — BCAC —
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
PSS011385 — — 683 individuals,
0.0 % Male samples
 Mean = 54.4 years
Sd = 9.2 years		 European — MINDACT —
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)
PSS010184 — —
[
  • 3,138 cases
  • , 197,057 controls
]
,
0.0 % Male samples
 Range = [40.0, 69.0] years European — UKB —
PSS011899 — —
[
  • 2,354 cases
  • , 4,742 controls
]
,
0.0 % Male samples
 — African American or Afro-Caribbean — AABCG —
PSS011707 Cases are those of incident breast cancer. In UK Biobank, cancer diagnoses were ascertained through linkage to national cancer registries in England, Wales, and Scotland. Invasive breast cancer was coded using the 10th Revision of the International Classification of Diseases. Death was ascertained via linkage to death registries. —
[
  • 2,716 cases
  • , 108,153 controls
]
,
0.0 % Male samples
 — European — UKB —
PSS011708 Cases are those of incident breast cancer. In UK Biobank, cancer diagnoses were ascertained through linkage to national cancer registries in England, Wales, and Scotland. Invasive breast cancer was coded using the 10th Revision of the International Classification of Diseases. Death was ascertained via linkage to death registries. —
[
  • 706 cases
  • , 34,751 controls
]
,
0.0 % Male samples
 — European — 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
 —
PSS011015 — Median = 16.9 years
[
  • 260 cases
  • , 7,741 controls
]
,
0.0 % Male samples
 Mean = 53.8 years
Sd = 7.8 years		 East Asian
(Japanese)		 — JPHC —
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.
PSS011356 — — 17,835 individuals,
0.0 % Male samples
 — European — KARMA —
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
PSS011677 Cases include women that developed breast cancer. All women were below the age of 70. Median = 10.0 years
Range = [0.03, 10.0] years
[
  • 163 cases
  • , 4,214 controls
]
,
0.0 % Male samples
 Mean = 59.92 years European
(Dutch)		 — RS —
PSS009990 — — 207,510 individuals,
0.0 % Male samples
 — European, Asian unspecified European and Asian 20 cohorts
  • ABCFS
  • ,ABCS
  • ,BBCC
  • ,BREOGAN
  • ,CGPS
  • ,EMC
  • ,HEBCS
  • ,HEBON
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MARIE
  • ,MEC
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,pKARMA
 BOSOM, NKR, UBCS
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
PSS011678 Cases include women that developed breast cancer. Within the cases there were 290 invasive breast cancer cases and 34 in situ breast cancer cases. Median = 12.4 years
Range = [0.03, 24.43] years
[
  • 320 cases
  • , 6,202 controls
]
,
0.0 % Male samples
 Mean = 66.05 years European
(Dutch)		 — RS —
PSS011321 — — 10,717 individuals,
0.0 % Male samples
 — African American or Afro-Caribbean
(non-Hispanic African)		 — MVP Full combined ancestry cohort: median age = 49 years, median follow-up time = 3.9 years
PSS011322 — — 19,939 individuals,
0.0 % Male samples
 — European — MVP Full combined ancestry cohort: median age = 49 years, median follow-up time = 3.9 years