BRCA1–2 mutations in breast cancer: Identification of nine new variants of BRCA1–2 genes in a population from central Western Spain

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) a...

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Bibliographic Details
Published in:Cancer letters 2006-02, Vol.233 (1), p.172-177
Main Authors: Salazar, Raquel, Cruz-Hernandez, Juan Jesús, Sanchez-Valdivieso, Enrique, Rodriguez, César A., Gomez-Bernal, Amalia, Barco, Elviradel, Fonseca, Emilio, Portugal, Teresa, Gonzalez-Sarmiento, Rogelio
Format: Article
Language:English
Subjects:
BRCA1
BRCA2
Breast cancer
Breast Neoplasms - genetics
Familial breast cancer
Female
Genes
Genes, BRCA1
Genes, BRCA2
Humans
Mutation
Ovarian cancer
Pathogenic mutations
Silent mutations
Unclassified variants
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Summary: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.
ISSN:0304-3835
1872-7980
DOI:10.1016/j.canlet.2005.03.006