부산대학교 도서관

Background: BRACA gene is a tumor suppressor gene that is responsible for breast cancer and ovarian cancer syndrome. In ovarian cancer, BRACA genes mutation means homologous recombination deficiency (HRD). Those patients shown very good response to PARP inhibitors. Here we report the status of BRACA gene clinicopathologic report in Hallym University Sacred Heart Hospital (HUSHH). Materials and methods: The total patients who had taken BRACA 1, 2 gene study during the last 6 years in HUSHH was 59 patients. The mean age was 56 years old. Thirty-eight serous carcinoma, 4 mucinous carcinoma, 9 endometrioid carcinoma, 5 clear cell carcinoma, 1 serous borderline ovarian tumor, 1 mixed serous carcinoma and one tubal cancer were histologic distribution. Next generation sequencings and sanger sequencings were used in the mutation evaluation. Results: The germline mutations were shown in 13 patients. They were composed with 8 (13.6%) women of BRACA1 mutations and 5 (8.5%) women of BRACA2 mutations. The somatic mutations were noted in 3 patients. A person (1.7%) had BRACA1 mutation and 2 (3.4%) patients had BRACA2 mutations. The total incidence of the germline plus somatic BRACA 1,2 mutation was 16 of 59 patients (27.1%). Conclusion: The incidence of BRACA 1,2 mutation in HUSHH ovarian cancer patients was 2.1 % and was similar as the other reports. The PARP inhibitor was effectiveness in these patients and the HRD study could be reported in the future.