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Disease Markers
Volume 2015 (2015), Article ID 194293, 8 pages
http://dx.doi.org/10.1155/2015/194293
Review Article

BRCA Genetic Screening in Middle Eastern and North African: Mutational Spectrum and Founder BRCA1 Mutation (c.798_799delTT) in North African

1Laboratoire de Recherche et de Biosécurité-P3, Hôpital Militaire d’Instruction Mohammed V, 10100 Rabat, Morocco
2Laboratoire de Biochimie-Immunologie, Faculté des Sciences, Université Mohammed V-Agdal, 10080 Rabat, Morocco
3Département d’Oncogénétique, Centre Jean Perrin, 58 rue Montalembert, 63011 Clermont-Ferrand, France
4Unité de Génétique, Hôpital Militaire d’Instruction Mohammed V, 10100 Rabat, Morocco
5Laboratoire d’Anatomopathologie, Hôpital Militaire d’Instruction Mohammed V, Equipe de Recherche en Pathologie Tumorale, Faculté de Médecine et de Pharmacie, 10100 Rabat, Morocco

Received 24 September 2014; Revised 16 January 2015; Accepted 26 January 2015

Academic Editor: Ralf Lichtinghagen

Copyright © 2015 Abdelilah Laraqui et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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. Conclusion. 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.