Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia
| العنوان: | Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia |
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| المؤلفون: | Lotfi Chouchane, Catherine Sibille, Yves-Jean Bignon, C. Dahan, A. Ben Ammar Elgaaied, T. Jalabert, Nancy Uhrhammer, Wijden Mahfoudh, Wafa Troudi, C. Bouchlaka Souissi, F. Ben Ayed |
| المصدر: | Journal of Human Genetics. 52:915-920 |
| بيانات النشر: | Springer Science and Business Media LLC, 2007. |
| سنة النشر: | 2007 |
| مصطلحات موضوعية: | Tunisia, endocrine system diseases, Genes, BRCA2, Population, Genes, BRCA1, Breast Neoplasms, Gene mutation, medicine.disease_cause, Frameshift mutation, Breast cancer, Genetics, Humans, Medicine, First-degree relatives, skin and connective tissue diseases, education, Genetics (clinical), Mutation, education.field_of_study, business.industry, medicine.disease, Male breast cancer, Cancer research, Female, business, Ovarian cancer |
| الوصف: | Hereditary breast cancer accounts for 3-8% of all breast cancers, with mutations in the BRCA1 and BRCA2 genes responsible for up to 30% of these. To investigate the prevalence of BRCA1 and BRCA2 gene mutations in breast cancer patients with affected relatives in Tunisia, we studied 36 patients who had at least one first degree relative with breast and/or ovarian cancer Thirty-four 34 patients were suggestive of the BRCA1 mutation and two were suggestive of the BRCA2 mutation, based on the presence of male breast cancer detected in their corresponding pedigrees. Four mutations in BRCA1 were detected, including a novel frame-shift mutation (c.211dupA) in two unrelated patients and three other frameshift mutations - c.4041delAG, c.2551delG and c.5266dupC. Our study is the first to describe the c.5266dupC mutation in a non-Jewish Ashkenazi population. Two frameshift mutations (c.1309del4 and c.5682insA) were observed in BRCA2. Nineteen percent (7/36) of the familial cases had deleterious mutations of the BRCA1 or BRCA2 genes. Almost all patients with deleterious mutations of BRCA1 reported a family history of breast and/or ovarian cancer in the index case or in their relatives. Our data are the first to contribute to information on the mutation spectrum of BRCA genes in Tunisia, and we give a recommendation for improving clinical genetic testing policy. |
| تدمد: | 1435-232X 1434-5161 |
| DOI: | 10.1007/s10038-007-0195-5 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b332b423e6e131e8e4128f3305b1dbc https://doi.org/10.1007/s10038-007-0195-5 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....1b332b423e6e131e8e4128f3305b1dbc |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1435232X 14345161 |
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| DOI: | 10.1007/s10038-007-0195-5 |