Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.Reportar como inadecuado

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon. - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

* Corresponding author 1 GMGF - Génétique Médicale et Génomique Fonctionnelle 2 Département d-Oncogénétique 3 Unité de génétique et biologie des cancers 4 Unité de Génétique Médicale

Abstract : ABSTRACT: Breast cancer is the most prevalent malignancy in women in Western countries, currently accounting for one third of all female cancers. Familial aggregation is thought to account for 5-10 % of all BC cases, and germline mutations in BRCA1 and BRCA2 account for less of the half of these inherited cases. In Lebanon, breast cancer represents the principal death-causing malignancy among women, with 50 % of the cases diagnosed before the age of 50 years. In order to study BRCA1-2 mutation spectra in the Lebanese population, 72 unrelated patients with a reported family history of breast and-or ovarian cancers or with an early onset breast cancer were tested. Fluorescent direct sequencing of the entire coding region and intronic sequences flanking each exon was performed. A total of 38 BRCA1 and 40 BRCA2 sequence variants were found. Seventeen of them were novel. Seven confirmed deleterious mutations were identified in 9 subjects providing a frequency of mutations of 12.5 %. Fifteen variants were considered of unknown clinical significance according to BIC and UMD-BRCA1-BRCA2 databases. In conclusion, this study represents the first evaluation of the deleterious and unclassified genetic variants in the BRCA1-2 genes found in a Lebanese population with a relatively high risk of breast cancer.

keyword : BRCA1 BRCA2 Breast cancer Familial Gene Lebanon Mutation

Autor: Nadine Jalkh - Jinane Nassar-Slaba - Eliane Chouery - Nabiha Salem - Nancy Uhrchammer - Lisa Golmard - Dominique Stoppa-Lyonnet -



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