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

Hereditary Cancer in Clinical Practice

André Mégarbané²  Yves-Jean Bignon⁴  Domique Stoppa-Lyonnet³  Lisa Golmard³  Nancy Uhrchammer⁴  Nabiha Salem¹  Eliane Chouery¹  Jinane Nassar-Slaba¹  Nadine Jalkh¹ 

[1] Unité de Génétique Médicale et laboratoire associé INSERM à l’Unité UMR_S910, Université Saint-Joseph, Beirut, Lebanon;Unité de Génétique Médicale. Faculté de Médecine, Université Saint-Joseph, 42, rue de Grenelle, Paris, 75007, France;Génétique oncologique, Institut Curie-Hôpital, Inserm U830, Université Paris-Descartes, Paris, France;Département d'Oncogénétique, Centre Jean Perrin, Clermont-Ferrand, France

关键词: Mutation;    Lebanon;    Gene;    Familial;    Breast cancer;    BRCA2;    BRCA1;   

Others  :  806444
DOI  :  10.1186/1897-4287-10-7

 received in 2012-04-16, accepted in 2012-06-19,  发布年份 2012

【 摘 要 】

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.

【 授权许可】

   
2012 Jalkh et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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