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Article

Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.

British journal of cancer - 26 Sept 2017

Gayarre Javier, Martín-Gimeno Paloma, Osorio Ana, Paumard Beatriz, Barroso Alicia, Fernández Victoria, de la Hoya Miguel, Rojo Alejandro, Caldés Trinidad, Palacios José, Urioste Miguel, Benítez Javier, García María J

Abstract excerpt

BACKGROUND: Despite a high prevalence of deleterious missense variants, most studies of RAD51C ovarian cancer susceptibility gene only provide in silico pathogenicity predictions of missense changes. We identified a novel deleterious RAD51C missense variant (p.Arg312Trp) in a high-risk family, and propose a criteria to prioritise RAD51C missense changes qualifying for functional analysis. METHODS: To evaluate...

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PMID: 28829762
DOI: 10.1038/bjc.2017.286
PMCID: PMC5625680

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