Prognostic and therapeutic implications of BRCA1 and BRCA2 mutations in ovarian cancer

Abstract

Introduction Ovarian cancer remains one of the leading causes of cancer-related mortality among women because of its asymptomatic early course, delayed diagnosis, and frequent presentation at advanced stages. Germline and somatic mutations in the BRCA1 and BRCA2 genes significantly increase the risk of ovarian cancer by impairing homologous recombination DNA repair, resulting in genomic instability. Beyond their role in carcinogenesis, BRCA mutations have become important prognostic and predictive biomarkers, influencing treatment response and clinical outcomes. This review summarizes current evidence regarding the impact of BRCA1/2 status on prognosis and therapeutic strategies in ovarian cancer. Methods A literature review was conducted using the PubMed and Scopus databases. English-language articles published between 2016 and 2026 were identified using combinations of the keywords ovarian cancer, BRCA1, BRCA2, PARP inhibitors, homologous recombination deficiency, and treatment. Original studies, systematic reviews, meta-analyses, and relevant clinical trials were included. Results The available evidence demonstrates that patients carrying BRCA1 or BRCA2 mutations generally experience improved progression-free survival and, in many studies, prolonged overall survival compared with non-carriers. This survival advantage is largely attributed to increased sensitivity to platinum-based chemotherapy and the efficacy of PARP inhibitors, which exploit synthetic lethality in homologous recombination-deficient tumors. The literature also emphasizes the importance of universal BRCA testing to optimize treatment selection, identify candidates for maintenance PARP inhibitor therapy, and facilitate genetic counseling. In addition, emerging mechanisms of resistance to PARP inhibitors remain a significant therapeutic challenge. Conclusion BRCA1/2 mutation status is a key biomarker in the management of ovarian cancer, supporting personalized treatment strategies and improving patient outcomes. Further research is needed to identify novel predictive biomarkers, overcome therapeutic resistance, and develop more effective targeted therapies.