SUMMARY. The study of mutations associated with the syndrome of hereditary breast and ovarian cancer is extremely important for understanding genetic risks among the Ukrainian female population. In this work, we conducted an NGS assay of mutations in genes associated with the syndrome of hereditary breast and ovarian cancer in 1090 women who had indications for testing and 407 women in the control group. As a result of the study, 233 patients with mutations were identified, which included 84 unique variants. The largest number of mutations was recorded in the BRCA1 (102), BRCA2 (42) and CHEK2 (67) genes. In the BRCA1 gene, the most frequently detected are: c.5266dup (p.Gln1756fs) – 45 cases, c.181T>G (p.Cys61Gly) – 13, c.1510del (p.Arg504fs) – 6, c.4035del (p.Glu1346fs) – 5. The BRCA1 gene is a key risk factor for cancer development at a young age, while CHEK2 is more often associated with oncology at an older age. The Population Attri-butable Risk (PAR) for BRCA1 is 7.49 %, which makes this gene a major risk factor. The odds ratio for CHEK2 mutations is 1.84 (95 % CI: 1.01– 3.34), and the PAR is 2.2 %. The highest frequency of mutations (BRCA1 and BRCA2) was recorded in the Central region of Ukraine. We have conducted the first large-scale population ge-netic study of the prevalence of hereditary mutations associated with the syndrome of hereditary breast and ovarian cancer in Ukraine, determining the frequency of the most common mutations in the study and match cohort.
Keywords: Breast cancer, ovarian cancer, Hereditary mutation, BRCA1, BRCA2, CHEK2
