Background: Pathogenic variants in BRCA1 and BRCA2 account for a major proportion of hereditary breast and ovarian cancers, influencing risk assessment, targeted therapy, and familial screening. Reported prevalence among Indian women varies widely due to regional and methodological differences. Accurate pooled estimates are critical for guiding testing policies and cancer prevention strategies in India.
Methods: Following PRISMA 2020 guidelines, a systematic search of PubMed, Embase, Scopus, Web of Science, and IndMED was conducted up to June 30, 2025. Eligible studies included Indian women with histologically confirmed breast and/or epithelial ovarian cancer who underwent germline BRCA1/2 testing. Two reviewers independently extracted data and assessed quality using the Joanna Briggs Institute checklist. Random-effects meta-analysis of logit-transformed proportions was performed to derive pooled prevalence estimates. Subgroup analyses were conducted by cancer type, triple-negative phenotype, family history, age, and testing methodology. Heterogeneity was quantified using I² statistics, and certainty of evidence was graded using GRADE.
Results: Thirty-two studies comprising 8, 417 participants met inclusion criteria. The pooled prevalence of BRCA1/2 pathogenic variants was 12.8% (95% CI: 10.1-16.2%) overall, with significant heterogeneity (I² = 79%). Among breast cancer patients, prevalence was 11.8% (95% CI: 9.1-14.9%)-BRCA1 7.6%, BRCA2 4.3%-rising to 18.9% in triple-negative subgroups. In ovarian cancer, pooled prevalence was 24.5% (95% CI: 19.0-31.1%), higher for BRCA1 (15.7%) than BRCA2 (8.8%). Studies using next-generation sequencing (NGS) detected more variants than those employing older methods. Funnel plots showed no significant publication bias (Egger’s p = 0.17).
Conclusion: Approximately one in eight Indian women with breast cancer and one in four with ovarian cancer harbor germline BRCA mutations. These findings support universal testing for ovarian cancer and expanded testing criteria for breast cancer in India. Integration of comprehensive NGS-based testing and genetic counseling into national oncology programs is urgently needed to improve prevention, therapy, and familial risk management.
International Journal of Clinical Obstetrics and Gynaecology
Indexed in Index Copernicus
Research Journals