Objective: To summarize the knowledge about BRCA1 and BRCA2 germline mutation spectrum in Maghrebian countries.
Methods: We performed a systematic review of the literature to determine the impact of BRCA1 and BRCA2 mutations on hereditary breast/ovarian cancer in the Maghrebian population from Algeria, Morocco and Tunisia. We searched all available data published in Pubmed, Scopus, Cancerlit® databases and other scientific literatures sources.
Results: Pathogenic mutations in BRCA1 gene were detected by DNA sequencing in 17.43% (34/195) of analyzed breast/ovarian cancer families from Algeria, Morocco and Tunisia. One common mutation c.798_799delTT was identified in the BRCA1 gene with a frequency of 5.12%. Pathogenic BRCA2 mutations were identified in 11 out 146 families (7.53%). A new common BRCA2 pathogenic mutation c.7235_7236insG was detected in Algerian and Moroccan families.
Conclusions: The Maghrebian population from Algeria, Morocco and Tunisia has just been started to be extensively studied; consequently knowledge of the prevalence and spectrum of BRCA1 and BRCA2 mutations in these populations is getting dense. The implications of these new findings in regard to genetic testing and counseling are substantial for patients and families at risk.