Assessing the Relevance of Molecular Genetic Testing for Mutations in BRCA Genes of Patients with Ovarian and Breast Cancer

Abstract

Genetic predisposition is one of the main risk factors for developing breast cancer (BC) and ovarian cancer (OC). We conducted an analysis of the epidemiology of BRCA1 and BRCA2 gene mutations in the Russian population and analyzed domestic and international clinical practice of molecular genetic testing of patients with breast and/or ovarian cancer for mutations in the BRCA1 and BRCA2 genes. The efficiency of mutation detection largely depends on the chosen technology of molecular genetic testing (MGT). 5382insC, 4153delA, 185delAG, 300T>G (in the BRCA1 gene) and 6174delT (in the BRCA2 gene) are the most common BRCA mutations in the Russian population. Comparison of domestic and foreign clinical recommendations showed that the scope of MGT results on BRCA mutations is wider in international clinical practice than in Russian practice. The choice of MGT technology is an important issue for clinical practice. The main advantage of NGS technology is the ability to detect mutations in any part of the BRCA1/2 genes.