PGS Publication: PGP000324

Publication Information (EuropePMC)
Title Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Breast Cancer Risk Prediction Among Asian Women.
PubMed ID 35311964(Europe PMC)
doi 10.1001/jamanetworkopen.2021.49030
Publication Date March 1, 2022
Journal JAMA Netw Open
Author(s) Yang Y, Tao R, Shu X, Cai Q, Wen W, Gu K, Gao YT, Zheng Y, Kweon SS, Shin MH, Choi JY, Lee ES, Kong SY, Park B, Park MH, Jia G, Li B, Kang D, Shu XO, Long J, Zheng W.
Released in PGS Catalog: May 18, 2022

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
East Asian
South Asian
Additional Asian Ancestries
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGP000324 |
Yang Y et al. JAMA Netw Open (2022)
Breast cancer breast carcinoma 111

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)
Evaluated Score 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
PPM013022 PGS002294
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 PGS002294
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
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
  • 368 cases
  • , 736 controls
0.0 % Male samples
East Asian