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- W60322108 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.PTT analysis of exon 11 revealed a normal and truncated protein in one patient between 16 from 12 families.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." @default.
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- W60322108 date "2002-09-01" @default.
- W60322108 modified "2023-10-09" @default.
- W60322108 title "[Rapid detection of BRCA-1 germline mutations by the protein truncation test in Tunisian families]." @default.
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