Depistage rapide des mutations germinales du gene BRCA 1 par le test de la proteine tronquee chez des familles Tunisiennes

Translated title of the contribution: Rapid detection of BRCA-1 germ-line mutations by protein truncation test in Tunisian families

Kamel Monastiri, Slim Ben Ahmed, Nadége Presneau, Jean Yves Bignon, Lotfi Chouchane

Research output: Contribution to journalArticle

5 Citations (Scopus)

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. 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.

Original languageFrench
Pages (from-to)515-518
Number of pages4
JournalTunisie Medicale
Volume80
Issue number9
Publication statusPublished - 1 Sep 2002
Externally publishedYes

Fingerprint

Germ-Line Mutation
Breast Neoplasms
Ovarian Neoplasms
Mutation
Proteins
Exons
Genes
Tunisia
Neoplasm Genes
Genetic Predisposition to Disease
Neoplasms
Population

Keywords

  • BRCA-1
  • Breast/ovarian cancer family
  • Hereditary predis-position to breast cancer
  • Protein truncation test

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Depistage rapide des mutations germinales du gene BRCA 1 par le test de la proteine tronquee chez des familles Tunisiennes. / Monastiri, Kamel; Ben Ahmed, Slim; Presneau, Nadége; Bignon, Jean Yves; Chouchane, Lotfi.

In: Tunisie Medicale, Vol. 80, No. 9, 01.09.2002, p. 515-518.

Research output: Contribution to journalArticle

Monastiri, Kamel ; Ben Ahmed, Slim ; Presneau, Nadége ; Bignon, Jean Yves ; Chouchane, Lotfi. / Depistage rapide des mutations germinales du gene BRCA 1 par le test de la proteine tronquee chez des familles Tunisiennes. In: Tunisie Medicale. 2002 ; Vol. 80, No. 9. pp. 515-518.
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