Affiliations: [a] Laboratory of Genetics, Immunology and Human Pathology at the Faculty of Sciences of Tunis, Faculty of Sciences of Tunis, University El Manar I 1060 Tunis, Tunisia | [b] Salah Azaiez Institute of Carcinology of Tunis, Boulevard 09 Avril, 1006 Bab Saadoun, Tunisia | [c] Laboratoire de Diagnostic Génétique et Moléculaire. Centre Jean-Perrin, 63011 Clermont-Ferrand, Cedex 01 France | [d] Laboratory of Molecular Genetic of Hereditary Pathologies, Center of Human Genetics UCL, Avenue E.Mounier- Entrée F. B 1200 Bruxelles, Belgium | [e] Laboratory of Molecular Immuno-oncology, Faculty of Medecine of Monastir, Tunisia
Correspondence:
[*]
Corresponding author: Doctor Wafa Troudi, Laboratory of Genetics, Immunology and Human Pathology at the Faculty of Sciences of Tunis, Faculty of Sciences of Tunis, Campus Universitaire El Manar I 1060 Tunis, Tunisia. Tel.: +216 7188 2200/+216 9890 0099; Fax: +216 7188 5480; E-mail: [email protected].
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.
Keywords: Family history, breast cancer susceptibility, BRCA1 gene, mutations, UV, SNPs, North Tunisia
