Predicted Trait | |
Reported Trait | Breast cancer |
Mapped Trait(s) | breast carcinoma (EFO_0000305) |
Score Construction | |
PGS Name | PRS-BC |
Development Method | |
Name | Known susceptibility loci (genome-wide significant SNPs) |
Parameters | LD r2 > 0.2 ; SNP threshold < 5×10^-8 |
Variants | |
Original Genome Build | GRCh37 |
Number of Variants | 109 |
Effect Weight Type | beta |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000711 |
Citation (link to publication) | Zhu M et al. PLoS Med (2025) |
Ancestry Distribution | |
Source of Variant Associations (GWAS) | European: 64% East Asian: 36% 357,482 individuals (100%) |
PGS Evaluation | East Asian: 100% 1 Sample Sets |
Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
---|---|---|---|
GWAS Catalog: GCST90018579 Europe PMC: 34594039 |
79,550 individuals | East Asian | BBJ |
GWAS Catalog: GCST90090980 Europe PMC: 32139696 |
48,981 individuals | East Asian | BCAC, HCES-Br, Other, SBCGS, SEBCS |
GWAS Catalog: GCST90090980 Europe PMC: 32139696 |
228,951 individuals | European | BCAC, HCES-Br, Other, SBCGS, SEBCS |
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 |
---|---|---|---|---|---|---|---|---|
PPM022402 | PSS011942| East Asian Ancestry| 57,359 individuals |
PGP000711 | Zhu M et al. PLoS Med (2025) |
Reported Trait: Breast Cancer | HR: 1.42 [1.3, 1.55] β: 0.344 |
C-index: 0.596 | — | Age,Sex (if applicable),Region,Top 10 genetic ancestry principal components | The HR and C-index values were derived from Cox proportional hazards regression models. |
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 |
---|---|---|---|---|---|---|---|---|
PSS011942 | ICD-10: C50 | Median = 11.33 years Range = [10.18, 12.26] years |
[ ,
0.0 % Male samples |
Mean = 53.69 years Sd = 11.01 years |
East Asian (Chinese) |
— | CKB | — |