Results of the genetic testing of germline mutations in genes BRCA1 and BRCA2 in ovarian cancer in Andijan region

Summary. Objective of the study — to evaluate the frequencies of occurrence of six known mutations in genes BRCA1 and BRCA2 in unselected patient populations with ovarian cancer (208 patients) and their next of kin (n=50). Materials: genoty­ping was performed through real-time polymerase chain reaction technology using a set «OncoGenetics BRCA» (LLC «Research and Production Company DNA-Technology», Russia). The operation of ­testing systems is based on a modified technique of «kissing probes». Polymerase chain reaction was performed using a ­detecting amplifier DTprime (LLC «Research and Production Company DNA-Techno­logy»). Mutations in genes BRCA1 and BRCA2 were identified in 11.1% of patients with ovarian cancer. Mutation 5382insC in exon 18 of gene BRCA1 made up 8.7% of patient population with ovarian cancer. The high frequency of mutation in genes BRCA1 and BRCA2 in patients with ovarian cancer confirms the necessity to conduct total genetic testing for this patient group. Analysis of mutations in genes BRCA1 (4153delA, 5382insC, Cys61Gly, 2080delA, 3819delGTAAA, 3875del-GTCT) and BRCA2 (6174delT) can be recommended for inclusion in the screening programs to detect hereditary cases of ovarian cancer. Genetic screening can identify most cases of hereditary forms of ovarian cancer patients with subsequent individualization of treatment of patients and to focus efforts on prevention and early diagnosis of diseases in the identification of mutations in the BRCA1 and BRCA2 genes in healthy women.
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