Polygenic Score (PGS) ID: PGS002294

Predicted Trait
Reported Trait Breast cancer
Mapped Trait(s) breast carcinoma (EFO_0000305)
Released in PGS Catalog: May 18, 2022
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Score Details

Score Construction
PGS Name PRS111
Development Method
Name Fine-mapping of GWAS-significant loci
Parameters p<0.00005
Variants
Original Genome Build GRCh37
Number of Variants 111
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000324
Citation (link to publication) Yang Y et al. JAMA Netw Open (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 88.3%
East Asian: 11.7%
417,206 individuals (100%)
Score Development/Training
East Asian: 100%
123,041 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: GCST90090980
Europe PMC: 32139696
 228,951 individuals European NR
GWAS Catalog: GCST90090980
Europe PMC: 32139696
 48,981 individuals East Asian NR
GWAS Catalog: GCST004988
Europe PMC: 29059683
 139,274 individuals European NR
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
—
[
  • 18,650 cases
  • , 104,391 controls
]
,
0.0 % Male samples
 East Asian
(Japanese, Korean, Chinese)		 BBJ, BCAC, HCES-Br, SBCGS, SEBCS — — — — KPOP

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
PPM013022 PSS009652|
East Asian Ancestry|
1,104 individuals
 PGP000324 |
Yang Y et al. JAMA Netw Open (2022)
 Reported Trait: Breast cancer — AUROC: 0.648 [0.613, 0.682] — Nongenetic risk score (body mass index, waist-to-hip ratio (WHR), benign breast disease, age at menarche, age at first live birth, family history of breast cancer) —
PPM013021 PSS009652|
East Asian Ancestry|
1,104 individuals
 PGP000324 |
Yang Y et al. JAMA Netw Open (2022)
 Reported Trait: Breast cancer OR: 1.67 [1.46, 1.92] AUROC: 0.639 [0.604, 0.674] — — —

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
PSS009652 — —
[
  • 368 cases
  • , 736 controls
]
,
0.0 % Male samples
 — East Asian
(Chinese)		 — NR —