Introduction/Background BRCA1 and BRCA2 carriers have an increased risk of developing ovarian cancer (OC), fallopian tube carcinoma (FTC), and primary peritoneal cancer (PPC). Germline mutations in BRCA1/BRCA2 are responsible for the development of ovarian cancer in at least 10% of cases. The aim of study was to investigate the BRCA status of high-grade serous OC, FTC, PPC.
Methodology Patients with OC, FTC and PPC with high grade serous were recruited. Data and blood of patients, who treated at oncogynecologic department N.N. Alexandrov National Cancer Centre of Belarus between January 2022 and May 2022 were collected. Germline mutations in BRCA1/BRCA2 were tested and analyzed by polymerase chain reaction (PCR).
Results A total of 75 patients were analyzed: 65 patients with OC, 9 with FTC, 1 with PPC. BRCA negative status was observed in 43 patients, BRCA positive in 32 (43%). 31 patients had BRCA1 mutation and 1 patient had BRCA2 mutation. The most frequently BRCA 1 mutations were: 5382incC (20 exon) – n=15, slightly less (n=9) 4153delA (11 exon), 185delAG (2 exon) – n=2, 300T>G (5 exon) – n=5. One patient had BRCA 2 mutation (6174 delT). 75% 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 (43%) in patients with ovarian cancer, fallopian tube carcinoma, primary peritoneal carcinoma with high-grade serous carcinoma requires further research. Genetic counseling is also especially necessary not only for patients, but also for their relatives in order to identify hereditary mutations and carry out preventive measures.
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