Specific features of BRCA - associated breast and ovarian pathology

With the development of modern technologies, the search for molecular markers for early diagnosis of cancer pathology and selection of individual treatments is continuing. Numerous scientific data indicate the biological features of hereditary-caused tumors, which are revealed in the nature of the clinical course of the disease and in sensitivity to various drugs. The emergence of such tumors is associated with the presence of germinal mutations in the genes BRCA1, BRCA2, CHEK2, TP53, ATM, PALB, NBN, PTEN, etc. The most common cause of hereditary breast and ovarian cancer are mutations in high penetrance suppressor genes BRCA1 and BRCA2, which are involved in the process of DNA repair by homologous recombination, in the cell proliferation and prevention of complex mechanisms of genomic instability. The studies of these processes allowed to correct tactics of treatment of patients with BRCA-associated breast and ovarian cancer. The studies also show that mutations in the BRCA genes are detected in patients with cancer of other organs (stomach, prostate, pancreas, colon, cervix, endometrium, pancreas, liver, bladder, and others). This paper presents a literature review devoted to the issues of clinical application of genetic analysis of mutations in the genes BRCA1 and BRCA2 by the example of breast and ovarian cancer. The article also covers the data on preventive surgical and therapeutic methods of treatment of people having these mutations carriers. The positive effect of targeted therapy is noted.