title: [Mutational analysis of breast/ovarian cancer hereditary predisposition gene BRCA1 in Tunisian women].
abstract: BRCA1 is a breast cancer susceptibility gene. Germline mutations in BRCA1 gene are found in 5 to 10% of breast cancer. The aim of this study is to screen the tunisian women with familial or sporadic breast cancer for BRCA1 gene mutations. The authors used the Protein Truncation Test (PTT) and DNA sequencing to detect BRCA1 gene mutations in 12 tunisian families with breast cancer and the Allele Specific Oligonucleotide-PCR (ASO-PCR) to detect the 185delAG and 1294del40 mutations in 150 tunisian women with sporadic breast cancer. A nonsens mutation was found, by PTT, in exon 11 of BRCA1 gene in one case of familial breast cancer. No mutation in the rest of exons was found by the DNA sequencing. The BRCA1 1294del40 mutation was found only in a patient with non familial breast cancer. The 185delAG mutation was absent in all cases of breast cancer. These data suggest that the germline mutation of BRCA1 is implicated in breast cancer in Tunisia and that the 185delAG mutation is absent in arab tunisian women.
authors.affiliation: Laboratoire d'Immuno-Oncologie Moléculaire, Faculté de Médecine de Monastir, Université du Centre, Tunisie.
authors.forename: S
authors.initials: S
authors.lastname: Mestiri
authors.forename: K
authors.initials: K
authors.lastname: Monastiri
authors.forename: S
authors.initials: S
authors.lastname: Ben Ahmed
authors.forename: N
authors.initials: N
authors.lastname: Bouaouina
authors.forename: N
authors.initials: N
authors.lastname: Presneau
authors.forename: Y J
authors.initials: YJ
authors.lastname: Bignon
authors.forename: H
authors.initials: H
authors.lastname: Khairi
authors.forename: L
authors.initials: L
authors.lastname: Chouchane
mesh_terms: D018912:Arabs / Q000235:genetics; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D019398:Genes, BRCA1 / Q000502:physiology*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D005820:Genetic Testing; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014416:Tunisia / Q000453:epidemiology
chemical_list: D018389:Codon, Nonsense