BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain.

Abstract

We carried out a mutational analysis of BRCA1 and BRCA2 genes in 103 individuals from a population in Western Central Spain and we identified nine new variants: two truncating mutations in BRCA2 [2604C>A (Y792X), 8873del4], three missense mutations in BRCA2 [677A>G (H150R), 958G>A (D224N) and 3398A>G (K1057R], and four silent mutations, two in BRCA1 [1115T>G (R332R) and IVS24+36 C>G], and two in BRCA2 [2583T>A (I785I) and 7854G>A (T2542T)]. In two unrelated families of our population, we identified the BRCA1 1806C>T (Q563X) mutation, which is considered to be a Swedish founder mutation. BRCA1 1806C>T (Q563X) and BRCA2 3036del4 gene mutations were the most frequent in our series.

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@article{Salazar2006BRCA12MI, title={BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain.}, author={Raquel S Salazar and Juan Jes{\'u}s Cruz-Hern{\'a}ndez and Enrique Alejandro S{\'a}nchez-Valdivieso and Cesar A Rodriguez and Amalia G{\'o}mez-Bernal and Elviradel Barco and Em{\'i}lio Jos{\'e} de S. Fonseca and Teresa Portugal and Rogelio Gonz{\'a}lez-Sarmiento}, journal={Cancer letters}, year={2006}, volume={233 1}, pages={172-7} }