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Article

Optimization of polygenic risk scores in BRCA1/2 pathogenic variant heterozygotes in epithelial ovarian cancer.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2023

Flaum Nicola, Bowes John, Smith Miriam J, Crosbie Emma J, Edmondson Richard, Lophatananon Artitaya, Evans D Gareth

Abstract excerpt

PURPOSE: A third of familial epithelial ovarian cancer (EOC) is explained by BRCA1/2 pathogenic variants. Polygenic risk scores (PRSs) for BRCA1/2 heterozygotes associated with EOC have been created, but impact of combination with clinical and hormonal risk factors is unclear. METHODS: We genotyped 300 cases and 355 controls and constructed modified PRSs based on those validated by Barnes et al. Model...

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Identifiers

PMID: 37212253
DOI: 10.1016/j.gim.2023.100898

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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