Predicted Trait | |
Reported Trait | Breast cancer |
Mapped Trait(s) | breast carcinoma (EFO_0000305) |
Score Construction | |
PGS Name | CC_Breast |
Variants | |
Original Genome Build | GRCh37 |
Number of Variants | 187 |
Development Method | |
Name | Genome-wide significant SNPs |
Parameters | P < 5x10-8, MAF > 1%, biallelic SNPs, LD-thin r2 > 0.3 |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000050 |
Citation (link to publication) | Graff RE et al. bioRxiv (2020) Preprint |
Study Identifiers | Sample Numbers | Sample Ancestry |
---|---|---|
GWAS Catalog: GCST001937 EuropePMC: 23535729 |
22,627 individuals | European |
GWAS Catalog: GCST007236 EuropePMC: 25751625 |
89,677 individuals | European |
GWAS Catalog: GCST004988 EuropePMC: 29059683 |
139,274 individuals | European |
GWAS Catalog: GCST005076 EuropePMC: 29058716 |
72,261 individuals | European |
GWAS Catalog: GCST005112 EuropePMC: 2905943 |
624 individuals | European |
GWAS Catalog: GCST001690 EuropePMC: 23001122 |
3,618 individuals | European |
GWAS Catalog: GCST002895 EuropePMC: 25956309 |
3,025 individuals | European (Italy) |
EuropePMC: 2371739 | [
|
European |
GWAS Catalog: GCST001683 EuropePMC: 22976474 |
3,748 individuals | African American or Afro-Caribbean |
GWAS Catalog: GCST001683 EuropePMC: 22976474 |
32,530 individuals | European |
GWAS Catalog: GCST002346 EuropePMC: 2449363 |
6,225 individuals | European |
GWAS Catalog: GCST001224 EuropePMC: 21908515 |
4,128 individuals | East Asian |
GWAS Catalog: GCST003842 EuropePMC: 27117709 |
19,291 individuals | European |
GWAS Catalog: GCST000952 EuropePMC: 2126313 |
6,346 individuals | European |
GWAS Catalog: GCST000162 EuropePMC: 18326623 |
548 individuals | European |
GWAS Catalog: GCST000811 EuropePMC: 20872241 |
8,428 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 |
---|---|---|---|---|---|---|---|---|
PPM000192 | PSS000111 | PGP000050 Graff RE et al. (2020) Pre | Reported Trait: Breast cancer | OR: 1.26 [1.24, 1.28] | — | — | Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, 10 PCs. | Results from meta-analysis of GERA and UKB |
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 |
---|---|---|---|---|---|---|---|---|
PSS000111 | Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 26000 | — | [ ,
0.0 % Male samples |
— | European | — | GERA, UKB | — |