Journal of Modern OncologyJournal of Modern Oncology1815-14341815-1442LLC Obyedinennaya Redaktsiya27116Research ArticleThe characteristics of determination of BRCA1 and BRCA2 mutations in serous ovarian cancerDemidovaI Adema-80@yandex.ruThe Moscow city cancer hospital No. 62 of the Department of health of Moscow15012017191303309042020Copyright © 2017, Consilium Medicum2017Mutations of the BRCA1/BRCA2 genes occur in 15-20% cases of ovarian cancer (OC) and are associated with increased sensitivity to platinum drugs and new target drugs that inhibit proteins of poly(ADP-ribose) polymerase family. The discovery of new therapeutic options in the treatment of patients with OC associated with mutations of the BRCA1/BRCA2 genes is resulted in significant changes in national and international clinical guidelines and in the development of new approaches for identification of mutations in the Russian Federation. The first results of the project of Russian Society of Clinical Oncology aimed at improvement of molecular genetic testing in the Russian Federation and associated with enhancing the effectiveness of antitumor treatment (www.cancergenome.ru), have showed the relevance of new two-stage testing algorithm including next-generation sequencing in special groups of patients. 1385 patients with platinum-sensitive relapsed OC were examined. BRCA1 and BRCA2 mutations were found in 22% of patients. BRCA1 gene mutations were found in 93.5% of cases and in 6.5% of cases - BRCA2 mutations. Next-generation sequencing helped to identify another 47 mutations and to determine mutations frequency - 0.03-2.3%. Statistically significant mutations were determined in patients with classical signs of familial cancer and in patients under 50 years of age. 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