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, Lotfi Chouchane, F. Ben Ayed, Y. J. Bignon, A. Ben Ammar Elgaaied

Research output: Contribution to journalArticle

15 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
Publication statusPublished - 2008
Externally publishedYes

Fingerprint

BRCA1 Gene
Haplotypes
Tunisia
Mutation
Breast Neoplasms
Frameshift Mutation
DNA Sequence Analysis
Ovarian Neoplasms
Population
Single Nucleotide Polymorphism
Cause of Death
Exons
Neoplasms
Familial Breast Cancer

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., ... 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.

Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer. / Troudi, Wafa; Uhrhammer, N.; Romdhane, K. Ben; Sibille, C.; Amor, M. Ben; El Khil, H. Khodjet; Jalabert, T.; Mahfoudh, W.; Chouchane, Lotfi; Ayed, F. Ben; Bignon, Y. J.; Elgaaied, A. Ben Ammar.

In: Cancer Biomarkers, Vol. 4, No. 1, 2008, p. 11-18.

Research output: Contribution to journalArticle

Troudi, W, Uhrhammer, N, Romdhane, KB, Sibille, C, Amor, MB, El Khil, HK, Jalabert, T, Mahfoudh, W, Chouchane, L, Ayed, FB, Bignon, YJ & Elgaaied, ABA 2008, 'Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer', Cancer Biomarkers, vol. 4, no. 1, pp. 11-18.
Troudi W, Uhrhammer N, Romdhane KB, Sibille C, Amor MB, El Khil HK et al. Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer. Cancer Biomarkers. 2008;4(1):11-18.
Troudi, Wafa ; Uhrhammer, N. ; Romdhane, K. Ben ; Sibille, C. ; Amor, M. Ben ; El Khil, H. Khodjet ; Jalabert, T. ; Mahfoudh, W. ; Chouchane, Lotfi ; Ayed, F. Ben ; Bignon, Y. J. ; Elgaaied, A. Ben Ammar. / Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer. In: Cancer Biomarkers. 2008 ; Vol. 4, No. 1. pp. 11-18.
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