The Landscape of BRCAMutations among Egyptian Women with Breast Cancer

Background: Deleterious germline mutations in BRCA1and BRCA2genes are associated with a high risk of breast and ovarian cancer. In many developing countries, including Egypt, the prevalence of BRCA1/2mutations among women with breast cancer (BC) is unknown. Aim: We aimed to determine the prevalence of deleterious germline BRCAmutations in Egyptian patients with breast cancer. Methods: We report the results of a cohort study of 81 Egyptian patients with breast cancer who were tested for germline BRCA1/2mutations during routine clinical practice, mostly for their young age of presentation, BC subtype, or presence of family history. In addition, we searched five databases to retrieve studies that reported the prevalence of BRCA1/2mutation status in Egyptian women with BC. A systematic review of the literature was performed, including prospective and retrospective studies. Results: In our patient cohort study, 12 patients (14.8%) were positive for either BRCA1/2deleterious mutations. Moreover, 13 (16.1%) patients had a variant of unknown significance (VUS) of BRCA1/2genes. Twelve studies were eligible for the systematic review, including 610 patients. A total of 19 deleterious germline mutations in BRCA1/2were identified. The pooled prevalence of BRCA1/2mutations was 40% (95% confidence interval 1–80%). Conclusion: The reported prevalence was highly variable among the small-sized published studies that adopted adequate techniques. In our patient cohort, there was a high incidence of VUS in BRCA1/2genes. Accordingly, there is an actual demand to conduct a prospective well-designed national study to accurately estimate the prevalence of BRCA1/2mutations among patients with BC in Egypt.