title: Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer.
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.
authors.affiliation: Laboratory of Genetics, Immunology and Human Pathology at the Faculty of Sciences of Tunis, University El Manar I 1060 Tunis, Tunisia. Wafa_t@yahoo.com
authors.forename: W
authors.initials: W
authors.lastname: Troudi
authors.forename: N
authors.initials: N
authors.lastname: Uhrhammer
authors.forename: K Ben
authors.initials: KB
authors.lastname: Romdhane
authors.forename: C
authors.initials: C
authors.lastname: Sibille
authors.forename: M Ben
authors.initials: MB
authors.lastname: Amor
authors.forename: H
authors.initials: H
authors.lastname: Khodjet El Khil
authors.forename: T
authors.initials: T
authors.lastname: Jalabert
authors.forename: W
authors.initials: W
authors.lastname: Mahfoudh
authors.forename: L
authors.initials: L
authors.lastname: Chouchane
authors.forename: F Ben
authors.initials: FB
authors.lastname: Ayed
authors.forename: Y J
authors.initials: YJ
authors.lastname: Bignon
authors.forename: A Ben Ammar
authors.initials: AB
authors.lastname: Elgaaied
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide