Analyse mutationnelle du gène BRCA1 de prédisposition héréditaire aux cancers sein/ovaire chez la femme tunisienne.

Translated title of the contribution: Mutational analysis of breast/ovarian cancer hereditary predisposition gene BRCA1 in Tunisian women

S. Mestiri, K. Monastiri, S. Ben Ahmed, N. Bouaouina, N. Presneau, Y. J. Bignon, H. Khairi, Lotfi Chouchane

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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.

Original languageFrench
Pages (from-to)11-15
Number of pages5
JournalArchives de l'Institut Pasteur de Tunis
Volume77
Issue number1-4
Publication statusPublished - 2000
Externally publishedYes

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Mestiri, S., Monastiri, K., Ben Ahmed, S., Bouaouina, N., Presneau, N., Bignon, Y. J., Khairi, H., & Chouchane, L. (2000). Analyse mutationnelle du gène BRCA1 de prédisposition héréditaire aux cancers sein/ovaire chez la femme tunisienne. Archives de l'Institut Pasteur de Tunis, 77(1-4), 11-15.