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Article

Performance of different polygenic risk scores for breast cancer risk prediction: in-depth evaluations across large UK and Australian cohorts.

European journal of human genetics : EJHG - 1 Feb 2026

Tanha Hamzeh M, Law Matthew H, Ingold Nathan, Olsen Catherine M, Pandeya Nirmala, Milne Roger L, MacInnis Robert J, Whiteman David C, Cust Anne E, Steinberg Julia

Abstract excerpt

Polygenic risk scores (PGS) have the potential to support enhanced, risk-based screening for breast cancer. Previous studies for many diseases found that genome-wide PGS (GW-PGS) outperform PGS derived by applying hard GWAS significance thresholds. To support future breast cancer risk predictions, we compared the predictive performance of two existing PGS (including PGS313, a leading hard-thresholding PGS) and...

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Identifiers

PMID: 41526671
DOI: 10.1038/s41431-025-02003-8
PMCID: PMC12858958

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