Article Text
Abstract
Introduction/Background BRCA mutations are known as a risk factors for breast and ovarian cancer. Germline mutations in BRCA1/BRCA2 are responsible for the development of ovarian cancer in at least 10% of cases. As for the Belarus, mutation frequency varies from 22,5 to 25%. In Central-Eastern European counties, there are some regional differences in the frequencies of various mutations may exist.
The aim of study was to investigate the BRCA status of ovarian cancer (OC), fallopian tube carcinoma (FTC), and primary peritoneal cancer (PPC) in Mogilev region of Belarus.
Methodology Patients with OC, FTC and PPC with high grade serous were recruited. Data and blood of patients, who treated in the oncogynecologic department of Mogilev regional oncology dispensary from 2022 till now were collected. Germline mutations in BRCA1/BRCA2 were tested and analyzed by polymerase chain reaction (PCR) in the National Molecular Genetic Laboratory of Carcinogenesis. All patients with their relatives have the opportunity of genetic counseling at medical genetic counseling office to identify hereditary mutations and carry out preventive measures in the National Molecular Genetic Laboratory of Carcinogenesis.
Results A total of 82 patients were analyzed: 72 patients with OC, 5 with FTC, 5 with PPC. BRCA negative status was observed in 60 patients, BRCA positive in 22 (27%). All patients had BRCA1 mutation. The most frequently BRCA 1 mutations were: 5266 dupC – n=16, 4035 delA – n=4, 68–69delAG – n=1, 181T>G – n=1. 80% of patients had a burdened family history and first-, second- and third-degree relatives with oncological diseases, mainly breast cancer, ovarian cancer, pancreatic cancer, prostate cancer.
Conclusion The high percentage BRCA 1, 2 mutations (27%) in patients with ovarian cancer, fallopian tube carcinoma, primary peritoneal carcinoma with high-grade serous carcinoma in Mogilev region requires further research.
Disclosures No disclosures.