Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early‐onset breast/ovarian cancer from Tunisia. (23rd February 2014)

• Record Type: Journal Article
• Authors: Riahi, A.; Kharrat, M.; Ghourabi, M. E.; Khomsi, F.; Gamoudi, A.; Lariani, I.; May, A. E.; Rahal, K.; Chaabouni‐Bouhamed, H.
• Is Part Of: Clinical genetics. Volume 87:Number 2(2015:Feb.)
• Page Start: 155
• Page End: 160
• Publication Date: 2014-02-23
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12337
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12337-abs-0001"> <title>Abstract</title> <p id="cge12337-para-0001">The contribution of <italic>BRCA</italic>1/<italic>BRCA</italic>2 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 <italic>BRCA</italic>1/2 genes in early onset and familial breast/ovarian cancer among Tunisian women. To identify predictive factors for <italic>BRCA</italic>1/2 mutations, we screened the entire coding sequences and intron/exon boundaries of <italic>BRCA</italic>1/<italic>BRCA</italic>2 genes in 48 patients by direct sequencing. Twelve pathogenic mutations were detected (25%); three in <italic>BRCA</italic>1 (c.211dupA in four families, c.5266dupC in three families and c.1504_1508delTTAAA in one family) and two novel mutations in <italic>BRCA</italic>2 (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 <italic>BRCA</italic> mutations.</p> </abstract>