Prevalence and Clinical Implications of <i>BRCA1</i> and <i>BRCA2 </i>Mutations in Breast and Ovarian Cancer Among Pakistani Women

Background: Major causes of hereditary breast and ovarian cancers are mutations in the BRCA1 and BRCA2 genes, especially affecting cancer type, onset, and prognosis. Objective: To investigate the frequency and clinical correlations of BRCA1 and BRCA2 mutations among breast and ovarian cancer patients, as well as individuals with strong family histories, in a Pakistani population. Methodology: This observational cross-sectional study was conducted in the Department of Medical Laboratory Technology at the University of Sialkot. Using a practical sampling technique, 168 female participants—including those with a substantial family history and diagnosed breast and ovarian cancer sufferers—were gathered. Blood or tissue samples were first stripped of DNA, then subjected to PCR and sequencing to identify BRCA1 and BRCA2 mutations. SPSS version 25 was used to analyze data; significance was defined at p <0.05. Results: Among breast cancer patients, 17.65% had BRCA1 and 11.76% had BRCA2 mutations. In ovarian cancer patients (n=43), 25.58% had BRCA1 and 18.60% had BRCA2 mutations. BRCA1 mutations were more frequent in younger age groups (25.00% in 18–30 years), and were significantly associated with triple-negative tumors (53.13%). BRCA2 mutations were more often found in hormone receptor-positive tumors (50.00%). A strong family history of breast cancer was observed in over 60% of BRCA mutation carriers. Conclusion: BRCA1 and BRCA2 mutations are prevalent in Pakistani breast and ovarian cancer patients and are closely linked to age at diagnosis, tumor subtype, and family history.