| Autor: |
Jalkh Nadine, Nassar-Slaba Jinane, Chouery Eliane, Salem Nabiha, Uhrchammer Nancy, Golmard Lisa, Stoppa-Lyonnet Domique, Bignon Yves-Jean, Mégarbané André |
| Jazyk: |
angličtina |
| Rok vydání: |
2012 |
| Předmět: |
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| Zdroj: |
Hereditary Cancer in Clinical Practice, Vol 10, Iss 1, p 7 (2012) |
| Druh dokumentu: |
article |
| ISSN: |
1897-4287 |
| DOI: |
10.1186/1897-4287-10-7 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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