title: BRCA1 and BRCA2 germline mutation spectrum in hereditary breast/ovarian cancer families from Maghrebian countries.
abstract: 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.
authors.affiliation: Unit of Genetics, Laboratory of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Sciences and Technology "Houari Boumediene", Algiers, Algeria. farid.cherbal@gmail.com
authors.forename: Farid
authors.initials: F
authors.lastname: Cherbal
authors.forename: Rabah
authors.initials: R
authors.lastname: Bakour
authors.forename: Saida
authors.initials: S
authors.lastname: Adane
authors.forename: Kada
authors.initials: K
authors.lastname: Boualga
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D010051:Ovarian Neoplasms / Q000235:genetics*