Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer

Wafa Troudi, N. Uhrhammer, K. Ben Romdhane, C. Sibille, M. Ben Amor, H. Khodjet El Khil, T. Jalabert, W. Mahfoudh, L. Chouchane, F. Ben Ayed, Y. J. Bignon, A. Ben Ammar Elgaaied

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16 Citations (Scopus)

Abstract

Breast cancer, the most commonly diagnosed cancer in women, is the second leading cause of cancer death in women worldwide. To investigate the contribution of BRCA1 gene mutations to familial breast cancer in Tunisia, 32 unrelated patients who had at least one first degree relative affected with breast and/or ovarian cancer were analysed. BRCA1 mutation analysis was performed by DNA sequencing of all BRCA1 exons. We identified four different BRCA1 frameshift mutations: c.4041delAG, c.2551delG and c.5266dupC already been described and one novel mutation, c.211dupA, observed in two unrelated families. C.5266dupC has previously been found among Jewish Ashkenazi and Eastern European populations. Our study describes it in Arabic/Berber population. Five out of thirty two familial cases had deleterious BRCA1 mutations. Fifteen additional cases carried unclassified variants (UV) or single nucleotide polymorphisms (SNPs). Our study is the first molecular investigation on the role of BRCA1 in hereditary breast cancer in North Tunisia.

Original languageEnglish
Pages (from-to)11-18
Number of pages8
JournalCancer Biomarkers
Volume4
Issue number1
DOIs
Publication statusPublished - 1 Jan 2008

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Keywords

  • BRCA1 gene
  • Breast cancer susceptibility
  • Family history
  • Mutations
  • North Tunisia
  • SNPs
  • UV

ASJC Scopus subject areas

  • Oncology
  • Genetics
  • Cancer Research

Cite this

Troudi, W., Uhrhammer, N., Romdhane, K. B., Sibille, C., Amor, M. B., El Khil, H. K., Jalabert, T., Mahfoudh, W., Chouchane, L., Ayed, F. B., Bignon, Y. J., & Elgaaied, A. B. A. (2008). Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer. Cancer Biomarkers, 4(1), 11-18. https://doi.org/10.3233/CBM-2008-4102