Article
Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry.
Familial cancer - 1 Sept 2014
Gabaldó Barrios Xavier, Sarabia Meseguer María Desamparados, Alonso Romero José Luis, Marín Vera Miguel, Marín Zafra Gema, Sánchez Henarejos Pilar, Sánchez Bermúdez Ana Isabel, Ruiz Espejo Francisco
Abstract excerpt
Mutations in breast cancer susceptibility (BRCA) genes lead to defects in DNA repair processes resulting in elevated genome instability and predisposing to breast and ovarian cancer. We report a novel mutation (c.1918C>T) in the exon 11 of the BRCA1 gene that consists of a nonsense mutation that causes a stop codon downstream in the 640 position of the protein. The mutation was present in two Spanish unrelated...
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