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Article

The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer.

Breast cancer research and treatment - 1 Feb 2021

Yang Ciyu, Arnold Angela G, Catchings Amanda, Rai Vikas, Stadler Zsofia K, Zhang Liying

Abstract excerpt

PURPOSE: Mutations in RAD51D are associated with a predisposition to primary ovarian, fallopian tube, and peritoneal carcinoma. Our study aims to characterize a RAD51D missense variant in a hereditary ovarian cancer family. METHODS: The effects of the RAD51D c.82G>A (p.Val28Met) variant on mRNA splicing were evaluated and characterized using RT-PCR, cloning and DNA sequencing. RESULTS: This variant completely...

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Identifiers

PMID: 33452952
DOI: 10.1007/s10549-020-06066-7
PMCID: PMC8414856

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