[Rapid detection of BRCA-1 germline mutations by the protein truncation test in Tunisian families]
Kamel Monastiri1, Slim Ben Ahmed, Nadége Presneau
1Laboratoire de Recherche d'Immuno-Oncologie Moléculaire, faculté de Médecine de Monastir.
Unlabelled:
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.
Conclusion:
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.
