Current Understanding of the Epidemiology and Clinical Implications of BRCA1 and BRCA2 Mutations for Epithelial Ovarian Cancer

Author(s): Jannatul Ferdous, Jakanta Faika, Muhammad Mobarock Hossain, Moniruzzaman Khan, Kashfia Binte Quasem, Mahira Zehreen Khan, Moktadir Mobarock Monsur Hossain

Background: BRCA1 and BRCA2 gene mutations are critical genetic factors associated with an increased risk of developing epithelial ovarian cancer (EOC). Understanding the epidemiology and clinical implications of these mutations is essential for effective risk assessment, treatment planning, and patient management. Objectives: To assess the clinical implications of BRCA1 and BRCA2 mutations on the prognosis and treatment outcomes of epithelial ovarian cancer patients. Methods: This cross-sectional study was carried out at BSMMU & lab aid cancer hospital & super specialty center, department of Gynecological Oncology on 130 patients presented at emergency department with open fracture tibia (all Gustilo types) within 24 hours of injury. Three successive cultures were carried out, one at emergency room (surveillance culture), 2nd at emergency theater after debridement and third at ward after 1 week (7 to 10 days). Statistical analyses of the results were be obtained by using window-based Microsoft Excel and Statistical Packages for Social Sciences (SPSS-24). Results: Of the 130 patients, 90 patients were belonged in group of BRCA1 and 40 were in group of BRCA2. Patients with BRCA mutations had a younger median age at diagnosis and were more likely to have a family history of breast or ovarian cancer. BRCA mutation carriers showed a better response to platinum-based chemotherapy, with a higher overall survival rate compared to non-carriers. However, these patients also exhibited a higher risk of developing secondary malignancies, emphasizing the need for ongoing surveillance and tailored treatment strategies. Conclusion: The presence of BRCA1 and BRCA2 mutations in epithelial ovarian cancer patients has significant clinical implications, influencing treatment response and long-term outcomes. The study highlights the importance of genetic testing for BRCA mutations in the management of ovarian cancer, particularly in identifying patients who may benefit from targeted therapies and personalized care. Further research is warranted to optimize treatment protocols and improve survival rates in this high-risk population.