HEREDITARY MUTATIONS IN THE BRCA1/2 GENES

BRCA1 and BRCA2 are tumour-suppressor genes encoding proteins that are essential for the repair of DNA double-strand breaks by homologous recombination (HR). Cells lacking BRCA1 or BRCA2 repair these damages through alternative and less precise mechanisms. People who carry pathogenic mutations in the BRCA1 or BRCA2 genes have an increased risk of developing breast, ovarian, pancreatic, and prostate cancer. In this regard, genetic testing for BRCA1/2 germline mutations is a valuable tool in cancer screening and prevention programs. Despite the fact that this topic is fairly well researched, however, there are new reports that further reveal the role of BRCA1 / 2 in the oncology context. In this review, we have tried to collect and summarize current information on the molecular structure of BRCA1/2 proteins, mutations leading to the development of oncological diseases, and existing methods of treatment.