title: The founder mutations in the BRCA1, BRCA2, and ATM genes in Moroccan Jewish women with breast cancer.
abstract: To gain insight into the molecular mechanisms underlying the inherited predisposition to breast cancer in non-Ashkenazi Jews, we genotyped 54 Jewish Moroccan women with breast cancer, unselected for family history of cancer, for the predominant Jewish mutations in BRCA1, BRCA2, and ATM. One patient (2%) was found to have the 185de1AG BRCA1 mutation, none was a carrier of the 6174delT BRCA2 mutation, and 2/54 (4%) were heterozygous for the ATM mutation. These rates were not significantly different from the rates in the general non-Ashkenazi population. These preliminary data may indicate that the predominant Jewish mutations in BRCA1, BRCA2, and ATM genes contribute little, if any, to breast cancer predisposition and risk among Moroccan Jews.
authors.affiliation: Department of Internal Medicine C, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: Y
authors.initials: Y
authors.lastname: Kreiss
authors.forename: F
authors.initials: F
authors.lastname: Barak
authors.forename: R G
authors.initials: RG
authors.lastname: Baruch
authors.forename: E
authors.initials: E
authors.lastname: Levy-Lahad
authors.forename: E
authors.initials: E
authors.lastname: Pras
authors.forename: E
authors.initials: E
authors.lastname: Friedman
mesh_terms: D000328:Adult; D000368:Aged; D064007:Ataxia Telangiectasia Mutated Proteins; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D005260:Female; D018703:Founder Effect; D005787:Gene Frequency / Q000235:genetics; D019398:Genes, BRCA1 / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D007585:Jews / Q000235:genetics*; D008875:Middle Aged; D009018:Morocco / Q000453:epidemiology; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D024682:BRCA2 Protein; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases