title: [Rapid detection of BRCA-1 germline mutations by the protein truncation test in Tunisian families].
abstract: Early-onset breast cancer characterize genetic predisposition to cancer in women. BRCA-1 gene was identified as one of the predisposition genes of breast/ovarian cancer. About 90% of the reported mutations in the hereditary breast and ovarian cancer gene, BRCA-1, result in truncated proteins. The aim of our study is to detect rapidly BRCA-1 mutations by the protein truncation test (PTT) in Tunisian women with early breast cancer. Population and methods. We underwent molecular analysis in families with more than: (a) a women under 40 years-old with breast cancer, uni or bilateral; (b) two 1st degree relatives women under 50 years-old with beast cancer. Sixteen women from 12 families were studied by PTT to screen mutations in exon 11 which encodes 61% of BRCA-1.
  
  
  RESULTS
  PTT analysis of exon 11 revealed a normal and truncated protein in one patient between 16 from 12 families.
  
  
  CONCLUSIONS
  BRCA-1 gene seems to contribute to at least 1/16 or 6.25% in women with hereditary predisposition to breast/ovarian cancer in Tunisia. PTT promises to be a valuable technique in detecting BRCA-1 mutations in our country.
authors.affiliation: Laboratoire de Recherche d'Immuno-Oncologie Moléculaire, faculté de Médecine de Monastir.
authors.forename: Kamel
authors.initials: K
authors.lastname: Monastiri
authors.forename: Slim
authors.initials: S
authors.lastname: Ben Ahmed
authors.forename: Nadége
authors.initials: N
authors.lastname: Presneau
authors.forename: Jean Yves
authors.initials: JY
authors.lastname: Bignon
authors.forename: Lotfi
authors.initials: L
authors.lastname: Chouchane
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D001943:Breast Neoplasms / Q000209:etiology / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics*; D014416:Tunisia