OBJECTIVES: BRCA1/2 mutations are involved in 5% cases of breast cancer (BC) and 5-15% of ovarian cancer (OC). The aim of our research was to identify reasonability of BRCA testing at diagnosis for Russian patients and to assess the current affordability of medical services and therapy options for BRCAm carriers in Russia.

METHODS: The systematic search was carried out to identify: a) prevalence of specific BRCA1/2 mutations in Russian cancer patients; b) evidence that founder mutations are associated with a high risk of BC/OC in familiars; c) information in clinical guidelines about specific diagnostic, monitoring and treatment options provided for BRCAm carriers.

RESULTS: Overall, the frequent mutations comprise >50% of all BRCAm cases in Russian population. The most common BRCA1 mutation in Russian patients is 5382insC for both cancers. There are two frequently identifying mutations - 300T>G and 185delAG, and two for OC - 4153delA and 2080delA. The most common BRCA2 mutation is 6174delT for both cancers. There was just one comparative study with statistically significant results about correlation between mutation rs4987117 in BRCA2 and increased risk of BC for BRCA carriers (OR 2.76, p=0.022). Other studies identified statistically significant higher frequency of mutations in BC/OC patients’ familiars than in women without family history. In Russian clinical guidelines, there is a recommendation for genetic counselling and BRCA testing for patients with high grade OC and BC with clinical signs of hereditary. Recommendation of PARP-inhibitors therapy exists only for OC patients. There are no prevention services for healthy BRCAm carries.

CONCLUSIONS: These results show the high potential of BRCAm testing for further introduction of an optimized personalized therapy for BRCAm carriers, as well as the early diagnostic of high-risk groups for prevention. Thus, it is a considerable demand for further economic evaluation of the feasibility of BRCAm testing wider implementation into the Russian health care system.