title: BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.
abstract: BACKGROUND
  The contribution of BRCA1 mutations to both hereditary and sporadic breast and ovarian cancer (HBOC) has not yet been thoroughly investigated in MENA.
  
  
  METHODS
  To establish the knowledge about BRCA1 mutations and their correlation with the clinical aspect in diagnosed cases of HBOC in MENA populations. A systematic review of studies examining BRCA1 in 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 all BRCA1 exons. 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 identified BRCA1 mutations, 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.
  
  
  CONCLUSIONS
  The knowledge of genetic structure of BRCA1 in 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 the BRCA1 gene emphasize the need for improving screening programs and individual testing/counseling.
authors: Laboratoire de Recherche et de Biosécurité-P3, Hôpital Militaire d'Instruction Mohammed V, 10100 Rabat, Morocco ; Laboratoire de Biochimie-Immunologie, Faculté des Sciences, Université Mohammed V-Agdal, 10080 Rabat, Morocco.
authors: Abdelilah
authors: A
authors: Laraqui
authors: Département d'Oncogénétique, Centre Jean Perrin, 58 rue Montalembert, 63011 Clermont-Ferrand, France.
authors: Nancy
authors: N
authors: Uhrhammer
authors: Laboratoire de Recherche et de Biosécurité-P3, Hôpital Militaire d'Instruction Mohammed V, 10100 Rabat, Morocco.
authors: Hicham E L
authors: HE
authors: Rhaffouli
authors: Laboratoire de Recherche et de Biosécurité-P3, Hôpital Militaire d'Instruction Mohammed V, 10100 Rabat, Morocco.
authors: Yassine
authors: Y
authors: Sekhsokh
authors: Laboratoire de Recherche et de Biosécurité-P3, Hôpital Militaire d'Instruction Mohammed V, 10100 Rabat, Morocco.
authors: Idriss
authors: I
authors: Lahlou-Amine
authors: Laboratoire de Recherche et de Biosécurité-P3, Hôpital Militaire d'Instruction Mohammed V, 10100 Rabat, Morocco.
authors: Tahar
authors: T
authors: Bajjou
authors: Laboratoire de Recherche et de Biosécurité-P3, Hôpital Militaire d'Instruction Mohammed V, 10100 Rabat, Morocco.
authors: Farida
authors: F
authors: Hilali
authors: Unité de Génétique, Hôpital Militaire d'Instruction Mohammed V, 10100 Rabat, Morocco.
authors: Jamila
authors: J
authors: El Baghdadi
authors: Laboratoire d'Anatomopathologie, Hôpital Militaire d'Instruction Mohammed V, Equipe de Recherche en Pathologie Tumorale, Faculté de Médecine et de Pharmacie, 10100 Rabat, Morocco.
authors: Abderrahmane
authors: A
authors: Al Bouzidi
authors: Laboratoire de Biochimie-Immunologie, Faculté des Sciences, Université Mohammed V-Agdal, 10080 Rabat, Morocco.
authors: Youssef
authors: Y
authors: Bakri
authors: Laboratoire de Biochimie-Immunologie, Faculté des Sciences, Université Mohammed V-Agdal, 10080 Rabat, Morocco.
authors: Said
authors: S
authors: Amzazi
authors: Département d'Oncogénétique, Centre Jean Perrin, 58 rue Montalembert, 63011 Clermont-Ferrand, France.
authors: Yves-Jean
authors: YJ
authors: Bignon
mesh_terms: D000352:Africa, Northern; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D019398:Genes, BRCA1; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008877:Middle East; D009154:Mutation