Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.

doi:10.1158/0008-5472.CAN-22-2319

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Article

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.

Cancer research - 1 Aug 2023

Hu Chunling, Nagaraj Anil Belur, Shimelis Hermela, Montalban Gemma, Lee Kun Y, Huang Huaizhi, Lumby Carolyn A, Na Jie, Susswein Lisa R, Roberts Maegan E, Marshall Megan L, Hiraki Susan, LaDuca Holly, Chao Elizabeth, Yussuf Amal, Pesaran Tina, Neuhausen Susan L, Haiman Christopher A, Kraft Peter, Lindstrom Sara, Palmer Julie R, Teras Lauren R, Vachon Celine M, Yao Song, Ong Irene, Nathanson Katherine L, Weitzel Jeffrey N, Boddicker Nicholas, Gnanaolivu Rohan, Polley Eric C, Mer Georges, Cui Gaofeng, Karam Rachid, Richardson Marcy E, Domchek Susan M, Yadav Siddhartha, Hruska Kathleen S, Dolinsky Jill, Weroha S John, Hart Steven N, Simard Jacques, Masson Jean Yves, Pang Yuan-Ping, Couch Fergus J

Abstract excerpt

Pathogenic protein-truncating variants of RAD51C, which plays an integral role in promoting DNA damage repair, increase the risk of breast and ovarian cancer. A large number of RAD51C missense variants of uncertain significance (VUS) have been identified, but the effects of the majority of these variants on RAD51C function and cancer predisposition have not been established. Here, analysis of 173 missense...

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Identifiers

PMID: 37253112
DOI: 10.1158/0008-5472.CAN-22-2319
PMCID: PMC10390864

Genes

RAD51C
RAD51B
RAD51D
XRCC2
XRCC3

Provenance

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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