Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects.

ABSTRACT: Breast cancer is currently the most common type of cancer in females. The majority of the hereditary forms of breast cancer are caused by mutations in the BRCA1 and BRCA2 genes, whose main function is the DNA repair of double-strand breaks. Genetic testing of females with a family history of breast cancer is recommended to determine their hereditary predisposition for this type of cancer. The variants with no clear clinical significance may represent a diagnostic challenge when performing targeted resequencing. In this study, DNA samples were obtained from 24 breast cancer patients (mean age, 35±10 years) with a positive family history and from 71 age-matched healthy controls. Informed consent was obtained from all the subjects. Sequence-targeted BRCA1 and BRCA2

SUBMITTER: Balabanski L 

PROVIDER: S-EPMC3999126 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature