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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families
Disease Markers, Volume 28, No. 6, Year 2010
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Description
Breast cancer is the leading cause of cancer death in women in Algeria. The contribution of BRCA1 and BRCA2 mutations to hereditary breast/ovarian cancer in Algerian population is largely unknown. Here, we describe analysis of BRCA1 and BRCA2 genes in 86 individuals from 70 families from an Algerian cohort with a personal and family history suggestive of genetic predisposition to breast cancer. Methods: The approach used is based on BRCA1 and BRCA2 mutations screening by High-Resolution Melting (HRM) curve analysis followed by direct sequencing. All samples for which no pathogenic mutation was found were analyzed by MLPA for large deletions or duplications. Results: Three distinct pathogenic mutations c.83-84delTG, c.181T>G, c.798-799delTT and two large rearrangements involving deletion of exon 2 and exon 8 respectively, were detected in BRCA1 gene. Moreover 17 unclassified variants and polymorphisms were detected in BRCA1 gene (6 described for the first time). Two pathogenic mutations, c.1310-1313delAAGA and c.5722-5723delCT and 40 unclassified variants and polymorphisms (14 never described before) were identified in BRCA2 gene. Conclusions: For the first time, we used HRM and MLPA to identify BRCA1 and BRCA2 mutations in Algerian patients with a personal and family history suggestive of genetic predisposition to breast cancer. The implications of these new findings in regard to genetic testing and counseling are substantial for the Algerian population. © 2010 - IOS Press and the authors.
Authors & Co-Authors
Cherbal, Farid
Algeria, Algiers
Université Des Sciences et de la Technologie Houari Boumediene
Bakour, Rabah
Algeria, Algiers
Université Des Sciences et de la Technologie Houari Boumediene
Adane, Saida
Algeria, Algiers
Central Hospital of Algiers
Boualga, Kada
Algeria, Blida
Anti Cancer Center
Benais-Pont, Gaelle
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Maillet, Philippe
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Statistics
Citations: 47
Authors: 6
Affiliations: 4
Identifiers
Doi:
10.3233/DMA-2010-0718
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study
Cohort Study
Study Locations
Algeria
Participants Gender
Female