title: BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families.
abstract: BACKGROUND
  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.
authors.affiliation: Unit of Genetics, Laboratory of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Sciences and Technology Houari Boumediene Algiers, Algeria. cherbal_farid@yahoo.fr
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
authors.forename: Gaelle
authors.initials: G
authors.lastname: Benais-Pont
authors.forename: Philippe
authors.initials: P
authors.lastname: Maillet
mesh_terms: D000328:Adult; D000462:Algeria; D051017:Apoptosis Regulatory Proteins; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D009367:Neoplasm Staging; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011379:Prognosis; D017384:Sequence Deletion; D015996:Survival Rate
chemical_list: D051017:Apoptosis Regulatory Proteins; C118024:BLID protein, human; D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human; D004273:DNA, Neoplasm