Mutation screening of splice sites of exon12 of BRCA2 in breast cancer.

      Аннотация: Several breast cancer susceptibility genes had been identified; among those are BRCA1 and BRCA2. Breast cancer is the predominant phenotype associated with mutations in BRCA1 and BRCA2 genes. However, the rate of mutations within the coding regions of the breast cancer susceptibility gene BRCA2 does not fairly explain the pathogenecity of the disease, nor accounting for all disease causing mutations. The aim of this study was to detect mutations that might affect the splicing of exon12 of the BRCA2 gene and thus modulating the functions of BRCA2?12 variant in particular and its contribution to the overall biological functions of BRCA2 in DNA repair and tumor suppression. The structural and functional consequences for the corresponding protein will help to understand the role played by different BRCA2 variants in breast cancer.

Ключевые слова: breast cancer, alternative splicing, BRCA2, Exon12, splice sites, exon/intron junction