Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon

• Published in: Hereditary cancer in clinical practice Vol. 10; no. 1; p. 7
• Main Authors: Jalkh, Nadine, Nassar-Slaba, Jinane, Chouery, Eliane, Salem, Nabiha, Uhrchammer, Nancy, Golmard, Lisa, Stoppa-Lyonnet, Domique, Bignon, Yves-Jean, Mégarbané, André
• Format: Journal Article
• Language: English
• Published: Poland BioMed Central Ltd 19.06.2012; BioMed Central; BMC
• Subjects: Analysis; BRCA1; BRCA2; Breast cancer; Cancer; Cancer patients; Care and treatment; Familial; Gene; Gene mutations; Genetic aspects; Genetics; Lebanon; Life Sciences; Mutation; Ovarian cancer; Physiological aspects; Prevalence studies (Epidemiology); Womens health; Lebanon; Lebanon; Gene; Familial; Breast cancer; BRCA1; Mutation; BRCA2
• ISSN: 1897-4287; 1731-2302; 1897-4287
• DOI: 10.1186/1897-4287-10-7

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.