Background. The contribution ofBRCA1mutations to both hereditary and sporadic breast and ovarian cancer (HBOC) has not yet been thoroughly investigated in MENA.Methods. To establish the knowledge aboutBRCA1mutations and their correlation with the clinical aspect in diagnosed cases of HBOC in MENA populations. A systematic review of studies examiningBRCA1in BC women in Cyprus, Jordan, Egypt, Lebanon, Morocco, Algeria, and Tunisia was conducted.Results. Thirteen relevant references were identified, including ten studies which performed DNA sequencing of allBRCA1exons. For the latter, 31 mutations were detected in 57 of the 547 patients ascertained. Familial history of BC was present in 388 (71%) patients, of whom 50 were mutation carriers. c.798_799delTT was identified in 11 North African families, accounting for 22% of total identifiedBRCA1mutations, suggesting a founder allele. A broad spectrum of other mutations including c.68_69delAG, c.181T〉G, c.5095C〉T, and c.5266dupC, as well as sequence of unclassified variants and polymorphisms, was also detected.Conclusion. The knowledge of genetic structure ofBRCA1in MENA should contribute to the assessment of the necessity of preventive programs for mutation carriers and clinical management. The high prevalence of BC and the presence of frequent mutations of theBRCA1gene emphasize the need for improving screening programs and individual testing/counseling.
Chemistry and Pharmacology