Assessing BRCA1 and BRCA2 mutation rates in African populations with hereditary breast/ovarian cancer: Insights from a systematic review and meta-analysis.

446 Background: Accurate prevalence estimates of BRCA1 and BRCA2 mutations in African women with breast and ovarian cancer are crucial for advancing personalized medicine, enhancing cancer genomics, and addressing capacity-building needs to improve patient outcomes in Africa. Objective: This study systematically assesses the frequency and distribution of BRCA pathogenic mutations in African populations with hereditary breast and ovarian cancer syndrome (HBOC) to provide insights into the genetic landscape of HBOC in Africa and identify areas for enhancing genetic testing, counseling, and clinical management. Methods: We conducted a systematic review adhering to PRISMA guidelines. Two authors independently performed abstract screening, study selection, and quality assessment using standardized forms. Eligible studies focusing on germline genetic predictors of HBOC in Africa were identified through MeSH terms and the PICO framework. Meta-analysis with a random-effects model was employed, and heterogeneity was evaluated using I-squared statistics in STATA version 18 and RevMan. Results: The review included 91 studies from 19 African countries. The age distribution of participants was as follows: under 35 years (7.61%), 35–45 years (50%), and over 45 years (42.45%). Research was predominantly concentrated in North Africa, with Morocco (25%) and Tunisia (16.30%) leading, while South Africa (15.22%) was the major contributor in Sub-Saharan Africa. Meta-analysis indicated a pooled prevalence of BRCA mutations in HBOC patients in Africa at 15.80% (95% CI: 15.80% to 16.80%), with BRCA1 mutations at 9.50% (95% CI: 7.60% to 11.11%) and BRCA2 at 8.70%. Conclusions: The study reveals notable BRCA1 (9.7%) and BRCA2 (8.6%) mutation rates among breast and ovarian cancer patients in Africa. However, with only 35% of African countries represented, these figures may underestimate the true prevalence. Expanding genetic and cancer genomics initiatives in Africa is essential to address disparities and enhance patient care. The findings underscore the need for improved research and healthcare infrastructure to better manage hereditary cancers in African populations. Keywords: BRCA1, BRCA2, Hereditary Breast/Ovarian Cancer Syndrome (HBOC), Genetic Mutations, Africa.