Systematic review and meta-analysis of the prevalence of germline BRCA1 and BRCA2 mutations in Indian women with breast and ovarian cancer
Author(s): Kirti Kaithwas, Apparao Khokale and Kamal Kishor Dewangan
Abstract: Germline pathogenic variants in the BRCA1 and BRCA2 genes are the most important genetic determinants of hereditary breast and ovarian cancers. In India, reported prevalence varies widely owing to ethnic heterogeneity, differences in testing indications, and evolving laboratory methods. To provide a consolidated national estimate, we conducted a systematic review and meta-analysis following PRISMA 2020 guidelines. A comprehensive search of PubMed, Embase, Scopus, Web of Science, Cochrane Library, and IndMED databases was performed from inception to NoveMarchmber 2025, including grey literature and reference lists of relevant studies. Eligible studies involved Indian women diagnosed with breast and/or ovarian cancer who underwent germline BRCA1 and/or BRCA2 testing using validated molecular techniques. Methodological quality was assessed using the Joanna Briggs Institute checklist for prevalence studies, and pooled prevalence was calculated using a DerSimonian-Laird random-effects model with Freeman-Tukey double arcsine transformation. Thirty-four studies comprising 10, 486 participants met inclusion criteria. The pooled prevalence of germline BRCA1/2 pathogenic or likely pathogenic variants was 11.8% (95% CI: 9.5-14.4), with BRCA1 mutations (7.1%) more common than BRCA2 (4.6%). Mutation prevalence was significantly higher among women with ovarian cancer (24.5%) and among triple-negative breast cancer cohorts (16.2%) compared with unselected breast cancer cases. Studies employing next-generation sequencing (NGS) with copy number variant (CNV) detection demonstrated higher detection rates than those using earlier limited methods. Considerable heterogeneity (I² = 86%) was observed but results remained robust in sensitivity analyses. The findings indicate that approximately one in nine Indian women with breast or ovarian cancer carries a germline BRCA mutation, emphasizing the urgent need to expand access to comprehensive genetic testing, counseling, and cascade screening in India.
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