| 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: GCST002346 EuropePMC: 24493630 |
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: 21263130 |
6,346 individuals | European |
| GWAS Catalog: GCST000162 EuropePMC: 18326623 |
548 individuals | European |
| GWAS Catalog: GCST000811 EuropePMC: 20872241 |
8,428 individuals | European |
| 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: 29059430 |
624 individuals | European |
| GWAS Catalog: GCST001690 EuropePMC: 23001122 |
3,618 individuals | European |
| GWAS Catalog: GCST002895 EuropePMC: 25956309 |
3,025 individuals | European (Italy) |
| EuropePMC: 23717390.0 | [
|
European |
| GWAS Catalog: GCST001683 EuropePMC: 22976474 |
3,748 individuals | African American or Afro-Caribbean |
| GWAS Catalog: GCST001683 EuropePMC: 22976474 |
32,530 individuals | European |
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 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) |
Detailed Phenotype Description | 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 | — |