title: Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia.
abstract: The contribution of BRCA1/BRCA2 mutations to hereditary breast cancer in the Tunisian population has not been accurately estimated. The purpose of our study was to estimate the incidence and spectrum of pathogenic mutations in BRCA1/2 genes in early onset and familial breast/ovarian cancer among Tunisian women. To identify predictive factors for BRCA1/2 mutations, we screened the entire coding sequences and intron/exon boundaries of BRCA1/BRCA2 genes in 48 patients by direct sequencing. Twelve pathogenic mutations were detected (25%); three in BRCA1 (c.211dupA in four families, c.5266dupC in three families and c.1504_1508delTTAAA in one family) and two novel mutations in BRCA2 (c.1313dupT in two families and c.7654dupT in two families). We also identified 23 different polymorphisms and unclassified variants. These results indicate that our population has a spectrum of recurrent BRCA mutations.
authors.affiliation: Laboratoire Génétique Humaine, Faculté de Médecine de Tunis, University Tunis El manar, Tunis, Tunisia.
authors.forename: A
authors.initials: A
authors.lastname: Riahi
authors.forename: M
authors.initials: M
authors.lastname: Kharrat
authors.forename: M E
authors.initials: ME
authors.lastname: Ghourabi
authors.forename: F
authors.initials: F
authors.lastname: Khomsi
authors.forename: A
authors.initials: A
authors.lastname: Gamoudi
authors.forename: I
authors.initials: I
authors.lastname: Lariani
authors.forename: A E
authors.initials: AE
authors.lastname: May
authors.forename: K
authors.initials: K
authors.lastname: Rahal
authors.forename: H
authors.initials: H
authors.lastname: Chaabouni-Bouhamed
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D014416:Tunisia
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
keywords: BRCA1; BRCA2; Tunisia; breast cancer; mutation