title: 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.
authors.affiliation: Laboratorio 14, Centro de Investigacion del Cancer (CIC), Universidad de Salamanca, Campus Miguel de Unamuno, and Servicio de Oncologia Medica, Hospital Universitario de Salamanca, Paseo de San Vicente 58-182, 37007 Salamanca, Spain.
authors.forename: Raquel
authors.initials: R
authors.lastname: Salazar
authors.forename: Juan Jesús
authors.initials: JJ
authors.lastname: Cruz-Hernandez
authors.forename: Enrique
authors.initials: E
authors.lastname: Sanchez-Valdivieso
authors.forename: César A
authors.initials: CA
authors.lastname: Rodriguez
authors.forename: Amalia
authors.initials: A
authors.lastname: Gomez-Bernal
authors.forename: Elviradel
authors.initials: E
authors.lastname: Barco
authors.forename: Emilio
authors.initials: E
authors.lastname: Fonseca
authors.forename: Teresa
authors.initials: T
authors.lastname: Portugal
authors.forename: Rogelio
authors.initials: R
authors.lastname: Gonzalez-Sarmiento
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D009154:Mutation