Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

doi:10.1016/j.gim.2025.101557

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Article

Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2025

Ngeow Joanne, Chiang Jianbang, Astiazaran-Symonds Esteban, Balmaña Judith, Cass Ilana, Kommoss Felix K F, Foulkes William D, James Paul A, Katcher Arielle, Klugman Susan, Livinski Alicia A, Mak Julie S, Voian Nicoleta, Wick Myra J, Tischkowitz Marc, Pal Tuya, Stewart Douglas R, Hanson Helen

Abstract excerpt

PURPOSE: RAD51C, RAD51D, and BRIP1 germline pathogenic variants (GPVs) are associated with increased lifetime risks of tubo-ovarian cancer. Resources for managing RAD51C, RAD51D, and BRIP1 heterozygotes in clinical practice are limited. METHODS: An international workgroup developed a Clinical Practice Resource to guide management of RAD51C, RAD51D, and BRIP1 heterozygotes using peer-reviewed publications and...

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Identifiers

PMID: 41070818
DOI: 10.1016/j.gim.2025.101557
PMCID: PMC12862869

Genes

RAD51C
RAD51D
BRIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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