Predicted Trait | |
Reported Trait | Breast Cancer |
Mapped Trait(s) | breast carcinoma (EFO_0000305) |
Score Construction | |
PGS Name | PRS3820_BC |
Variants | |
Original Genome Build | GRCh37 |
Number of Variants | 3,820 |
Development Method | |
Name | LASSO penalized regression |
Parameters | p < 0.001 |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000002 |
Citation (link to publication) | Mavaddat N et al. Am J Hum Genet (2018) |
Study Identifiers | Sample Numbers | Sample Ancestry |
---|---|---|
GWAS Catalog: GCST004988 EuropePMC: 29059683 |
139,274 individuals | European |
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 |
---|---|---|---|---|---|---|---|
Invasive breast cancer-affected | — | [ ,
0.0 % Male samples |
— | European | — | 25 cohorts
|
Validation Cohort |
Invasive breast cancer-affected | — | [ ,
0.0 % Male samples |
— | European | — | 68 cohorts
|
Training Cohort |
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 |
---|---|---|---|---|---|---|---|---|
PPM000008 | PSS000004 | PGP000002 Mavaddat N et al. (2018) | Reported Trait: Invasive breast cancer | OR: 1.66 [1.61, 1.7] | AUROC: 0.636 | — | study, genetic PCs 1-15 | — |
PPM000388 | PSS000218 | PGP000057 Homburger JR et al. (2019) Ext. | Reported Trait: Breast Cancer (personal history) | — | AUROC: 0.63 | — | — | — |
PPM000384 | PSS000218 | PGP000057 Homburger JR et al. (2019) Ext. | Reported Trait: Breast Cancer (personal history) | OR: 1.56 [1.45, 1.68] | — | — | age at menarche | — |
PPM000386 | PSS000218 | PGP000057 Homburger JR et al. (2019) Ext. | Reported Trait: Breast Cancer (personal history) | — | AUROC: 0.78 | — | age, sex | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS000004 | Invasive breast cancer-affected | — | [ ,
0.0 % Male samples |
— | European | — | 10 cohorts
|
Prospective Test Set |
PSS000218 | Phenotypic information was self-reported by the individual through an online, interactive health history tool | — | [ ,
0.0 % Male samples |
— | European | — | CG | Samples are individuals whose healthcare provider had ordered a Color Genomics multi-gene panel test |