PREVALENCE OF BRCA GENE MUTATION IN EPITHELIAL OVARIAN CANCER PATIENTS IN ODISHA: A SINGLE TERTIARY CARE CENTRE-BASED CROSS-SECTIONAL ANALYTICAL STUDY

Abstract

Background: Epithelial ovarian cancer (EOC) accounts for nearly 90% of ovarian malignancies and remains the leading cause of mortality among gynecologic cancers. Approximately 10–15% of cases are hereditary and are mainly associated with germline mutations in the BRCA1 and BRCA2 genes. These genes play a crucial role in DNA repair through homologous recombination, and mutations significantly increase the lifetime risk of ovarian and breast cancers. Determining the prevalence of BRCA mutations in regional populations is important for guiding targeted therapy and genetic counseling.

Objective: To determine the prevalence of BRCA1 and BRCA2 gene mutations among patients with epithelial ovarian cancer in a tertiary cancer care center in Odisha.

Methods: This cross-sectional analytical study included patients with histopathologically confirmed epithelial ovarian cancer, primary peritoneal carcinoma, or fallopian tube carcinoma. After obtaining written informed consent, demographic data, family history, clinical details, and histopathological findings were recorded. Germline mutation testing was performed using blood samples, and somatic mutation testing was conducted using tumor tissue samples. Next Generation Sequencing (NGS) technology was used for genetic analysis in collaboration with inDNA Life Sciences. The prevalence of BRCA mutations was calculated and patients were categorized as BRCA-positive or BRCA-negative.

Results: A total of 566 patients were studied over a period of 1 year and 7 months. The mean age of patients was 47 years (range 20–65 years). BRCA mutations were detected in 64 patients (11.3%). Among these, 41 patients (7.24%) had BRCA1 mutations and 23 patients (4.06%) had BRCA2 mutations. Of the mutation-positive patients, 11 had a family history of breast or ovarian cancer. High-grade serous ovarian carcinoma was the most common histological subtype observed.

Conclusion: The prevalence of BRCA mutations in epithelial ovarian cancer patients in our institution was 11.3%, with BRCA1 mutations being more frequent than BRCA2 mutations. Identification of BRCA mutations has important implications for targeted therapy with PARP inhibitors and for genetic counseling of family members.