Predicted Trait | |
Reported Trait | Breast Cancer |
Mapped Trait(s) | breast carcinoma (EFO_0000305) |
Score Construction | |
PGS Name | PRS77_BC |
Variants | |
Original Genome Build | NR |
Number of Variants | 77 |
Development Method | |
Name | SNPs passing genome-wide significance |
Parameters | P<5x10-8 |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000001 |
Citation (link to publication) | Mavaddat N et al. J Natl Cancer Inst (2015) |
Study Identifiers | Sample Numbers | Sample Ancestry |
---|---|---|
GWAS Catalog: GCST001937 EuropePMC: 23535729 |
22,627 individuals | European |
PGS Performance Metric ID (PPM ID) |
PGS Sample Set ID (PSS ID) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
PGS Classification Metrics | Other Metrics | Covariates Included in the Model | PGS Performance: Other Relevant Information |
---|---|---|---|---|---|---|---|---|
PPM000011 | PSS000004 | PGP000002 Mavaddat N et al. Am J Hum Genet (2018) Ext. |
Reported Trait: Invasive breast cancer | OR: 1.46 [1.42, 1.49] | AUROC: 0.603 | — | study, genetic PCs 1-15 | — |
PPM000114 | PSS000070 | PGP000033 Kuchenbaecker KB et al. J Natl Cancer Inst (2017) Ext. |
Reported Trait: Breast cancer in BRCA1 mutation carriers | HR: 1.13 [1.1, 1.16] | — | — | Country, birth year | — |
PPM000117 | PSS000071 | PGP000033 Kuchenbaecker KB et al. J Natl Cancer Inst (2017) Ext. |
Reported Trait: Breast cancer in BRCA2 mutation carriers | HR: 1.22 [1.17, 1.28] | — | — | Country, birth year | — |
PPM000001 | PSS000001 | PGP000001 Mavaddat N et al. J Natl Cancer Inst (2015) |
Reported Trait: All breast cancer | OR: 1.55 [1.52, 1.58] | C-index: 0.622 [0.619, 0.627] | — | — | — |
PPM000962 | PSS000486 | PGP000109 Kramer I et al. Am J Hum Genet (2020) Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.21 [1.13, 1.29] | — | — | Country | — |
PPM000961 | PSS000484 | PGP000109 Kramer I et al. Am J Hum Genet (2020) Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.21 [1.14, 1.29] | — | — | Country | — |
PPM000945 | PSS000486 | PGP000109 Kramer I et al. Am J Hum Genet (2020) Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.21 [1.13, 1.29] | — | — | Country | — |
PPM000944 | PSS000484 | PGP000109 Kramer I et al. Am J Hum Genet (2020) Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.21 [1.14, 1.29] | — | — | Country | — |
PGS Sample Set ID (PSS ID) |
Phenotype Definitions and Methods | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
---|---|---|---|---|---|---|---|---|
PSS000001 | All breast cancer | — | [
|
— | European | — | 33 cohorts
|
iCOGS |
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 | [ ,
0.0 % Male samples |
Median (Age At Diagnosis) = 56.0 years | European | — | 42 cohorts
|
— |
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 | [ ,
0.0 % Male samples |
Median (Age At Diagnosis) = 56.0 years | European | — | 42 cohorts
|
— |
PSS000070 | BRCA1 mutation carriers were followed until breast or ovarian cancer diagnosis, bilateral prophylactic mastectomy, or age at last observation whichever occurred first. | — | [ ,
0.0 % Male samples |
— | European | Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry | CIMBA | Median censoring age (cases) = 40 |
PSS000071 | BRCA2 mutation carriers were followed until breast or ovarian cancer diagnosis, bilateral prophylactic mastectomy, or age at last observation whichever occurred first. | — | [ ,
0.0 % Male samples |
— | European | Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry | CIMBA | Median censoring age (cases) = 43 |
PSS000004 | Invasive breast cancer-affected | — | [ ,
0.0 % Male samples |
— | European | — | 10 cohorts
|
Prospective Test Set |