Characteristics of BRCA-associated epithelial ovarian cancer in the population of the Russian Federation

The presence of clinically significant variants in the BRCA1 and BRCA2 genes in patients with ovarian cancer largely determines the choice of treatment tactics and preventive measures. The aim of this work was to investigate the characteristics of BRCA -associated epithelial ovarian cancer in the population of the Russian Federation. The study included 298 patients diagnosed with epithelial ovarian cancer. In the first stage, blood samples from all patients were tested for the presence of the eight most common pathogenic variants in the BRCA1 and BRCA2 genes using real-time PCR. Next, 93 patients with epithelial ovarian cancer in whom no damage to the BRCA1 and BRCA2 genes had been detected in the first phase underwent next-generation sequencing (NGS) of the BRCA1 and BRCA2 exomes. As a result, the most frequent hereditary variants in the BRCA1 and BRCA2 genes in the population of the Russian Federation were identified in 16% of patients, among which the 5382insC variant in the BRCA1 gene predominated. Using the NGS method, 13 clinically significant variants in the BRCA1 and BRCA2 genes were detected in 16% of patients with epithelial ovarian cancer. Thus, epithelial ovarian cancer in the population of the Russian Federation is characterized by a relatively high frequency and a wide range of germline pathogenic variants in the BRCA1 and BRCA2 genes, so that the use of only "standard" diagnostic panels may lead to false-negative results. The use of high-throughput sequencing allows for at least a twofold increase in the efficiency of diagnosing clinically significant variants in the BRCA1 and BRCA2 genes in patients with epithelial ovarian cancer. Clinical and morphologic features of BRCA -associated epithelial ovarian cancer suggest the need for molecular genetic testing in all patients with this diagnosis, especially those with high-grade serous carcinoma.