BRCA Mutation Status and its Association to Clinicopathological Features in Epithelial Ovarian Cancer

Abstract

Background & Objective: Epithelial Ovarian Cancer (EOC), the most lethal gynecological malignancy, demonstrates distinct biological behaviors in BRCA-mutated cases. This study was conducted with aim of investigating the association between BRCA mutations and clinicopathological features in EOC patients, comparing characteristics between BRCA1 and BRCA2 subtypes.Materials & Methods: This cross-sectional study was conducted at Dr. Wahidin Sudirohusodo Hospital, Makassar (December 2023- December 2024). Forty-seven histologically confirmed EOC patients were included. Clinicopathological data were extracted from medical records, and BRCA status was assessed via genetic testing. Data were analyzed using SPSS software (version 26.0). P<0.05 was considered significant.Results: BRCA mutations were identified in 25.5% (12/47) of patients. The BRCA-positive group compared to BRCA-negative cases exhibited significantly higher CA-125 levels (655.08±184.35 vs 381.54±165.54 U/mL; P<0.001), smaller primary tumors (13.69±5.01 vs 17.75±5.46 cm; P=0.028), and universal bilateral adnexal involvement (100% vs 51.4%; P=0.002). Omental involvement (75% vs 40%; P=0.049) and weight loss (100% vs 71.4%; P=0.046) were more frequent in BRCA-positive patients. No significant differences were found between BRCA1 (n=9) and BRCA2 (n=3) subgroups in tumor size, CA-125, or metastatic patterns.Conclusion: BRCA-mutated EOC demonstrates aggressive features (elevated CA-125, bilateral spread) despite smaller primary tumors, suggesting distinct biological behavior. Early detection of BRCA mutations may aid in determining prognosis and guiding targeted treatment strategies.

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