Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early‐onset breast/ovarian cancer from Tunisia |
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| Authors: | A. Riahi M. Kharrat M. E. Ghourabi F. Khomsi A. Gamoudi I. Lariani A. E. May K. Rahal H. Chaabouni‐Bouhamed |
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| Affiliation: | 1. Laboratoire Génétique Humaine, Faculté de Médecine de Tunis, University Tunis El manar, Tunis, Tunisia;2. LARODEC, High Institute of Management, University of Tunis, Tunis, Tunisia;3. Department of Surgical Oncology, Salah Azaiz Institute, Tunis, Tunisia;4. Department of Immunohistocytology, Salah Azaiz Institute, Tunis, Tunisia;5. Department of Hereditary and Congenital Disorders, Charles Nicolle Hospital, Tunis, Tunisia |
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| 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. |
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| Keywords: | BRCA1 BRCA2 breast cancer mutation Tunisia |
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