Polygenic Score (PGS) ID: PGS005164

Predicted Trait
Reported Trait Breast cancer
Mapped Trait(s) breast carcinoma (EFO_0000305)
Released in PGS Catalog: March 17, 2025
Download Score FTP directory
Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

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

Development Samples

Source of Variant Associations (GWAS)
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

Performance Metrics

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) 		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.

Evaluated Samples

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
[
  • 486 cases
  • , 56,873 controls
]
,
0.0 % Male samples
 Mean = 53.69 years
Sd = 11.01 years		 East Asian
(Chinese)		 — CKB —