%0 Journal Article
%T Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon
%A Nadine Jalkh
%A Jinane Nassar-Slaba
%A Eliane Chouery
%A Nabiha Salem
%A Nancy Uhrchammer
%A Lisa Golmard
%A Dominique Stoppa-Lyonnet
%A Yves-Jean Bignon
%A Andre Megarbane
%J Hereditary Cancer in Clinical Practice
%D 2012
%I BioMed Central
%R 10.1186/1897-4287-10-7
%X 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.
%K BRCA1
%K BRCA2
%K Breast cancer
%K Familial
%K Gene
%K Lebanon
%K Mutation
%U http://www.hccpjournal.com/content/10/1/7/abstract