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Article

Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: A case-control study.

Clinical genetics - 1 Jan 2022

Flaum Nicola, van Veen Elke M, Smith Olivia, Amico Stephanie, Newman William G, Crosbie Emma J, Edmondson Richard, Smith Miriam J, Evans D Gareth

Abstract excerpt

BRIP1 is a moderate susceptibility epithelial ovarian cancer (EOC) gene. Having identified the BRIP1 c.1045G>C missense variant in a number of families with EOC, we aimed to investigate the frequency of this and BRIP1.2392C>T pathogenic variant in patients with breast cancer (BC) and/or EOC. A case-control study of 3767 cases and 2043 controls was undertaken investigating the presence of these variants using...

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PMID: 34585738
DOI: 10.1111/cge.14068

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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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