Polygenic Score (PGS) ID: PGS003396

Predicted Trait
Reported Trait Breast cancer
Mapped Trait(s) breast carcinoma (EFO_0000305)
Released in PGS Catalog: Jan. 19, 2023
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Score Details

Score Construction
Development Method
Name Genome-wide significant SNPs
Parameters r2>0.8
Original Genome Build GRCh37
Number of Variants 11
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000415
Citation (link to publication) Jee YH et al. Int J Epidemiol (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
East Asian: 100%
95,283 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: GCST90013695
Europe PMC: 32514122
95,283 individuals East Asian BBJ

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM016280 PSS010095|
East Asian Ancestry|
41,031 individuals
PGP000415 |
Jee YH et al. Int J Epidemiol (2022)
Reported Trait: Occurrence of breast cancer HR: 1.35 [1.25, 1.45] AUROC: 0.58 [0.56, 0.61] principal component

Evaluated Samples

PGS Sample Set 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
PSS010095 41,031 individuals,
0.0 % Male samples
East Asian