Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia

Wafa Troudi, N. Uhrhammer, C. Sibille, C. Dahan, W. Mahfoudh, C. Bouchlaka Souissi, T. Jalabert, Lotfi Chouchane, Y. J. Bignon, F. Ben Ayed, A. Ben Ammar Elgaaied

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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.

Original languageEnglish
Pages (from-to)915-920
Number of pages6
JournalJournal of Human Genetics
Issue number11
Publication statusPublished - Nov 2007
Externally publishedYes



  • BRCA1
  • BRCA2
  • Breast cancer
  • Mutation analysis
  • Tunisia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Troudi, W., Uhrhammer, N., Sibille, C., Dahan, C., Mahfoudh, W., Bouchlaka Souissi, C., Jalabert, T., Chouchane, L., Bignon, Y. J., Ben Ayed, F., & Ben Ammar Elgaaied, A. (2007). Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia. Journal of Human Genetics, 52(11), 915-920.