Prevalance of <it>BRCA1</it> and <it>BRCA2</it> mutations in familial breast cancer patients in Lebanon

• Main Authors: Jalkh Nadine, Nassar-Slaba Jinane, Chouery Eliane, Salem Nabiha, Uhrchammer Nancy, Golmard Lisa, Stoppa-Lyonnet Domique, Bignon Yves-Jean, Mégarbané André
• Format: Article
• Language: English
• Published: BMC 2012-06-01
• Series: Hereditary Cancer in Clinical Practice
• Subjects: BRCA1; BRCA2; Breast cancer; Familial; Gene; Lebanon; Mutation
• Online Access: http://www.hccpjournal.com/content/10/1/7

<p>Abstract</p> <p>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 <it>BRCA1</it> and <it>BRCA2</it> 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.</p> <p>In order to study <it>BRCA1/2</it> 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.</p> <p>A total of 38 <it>BRCA1</it> and 40 <it>BRCA2</it> 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.</p> <p>In conclusion, this study represents the first evaluation of the deleterious and unclassified genetic variants in the <it>BRCA1/2</it> genes found in a Lebanese population with a relatively high risk of breast cancer.</p>