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Germline BRCA2 mutations and the risk of esophageal squamous cell carcinoma

Akbari, M.R. and Malekzadeh, R. and Nasrollahzadeh, D. and Amanian, D. and Islami, F. and Li, S. and Zandvakili, I. and Shakeri, R. and Sotoudeh, M. and Aghcheli, K. and Salahi, R. and Pourshams, A. and Semnani, S. and Boffetta, P. and Dawsey, S.M. and Ghadirian, P. and Narod, S.A. (2008) Germline BRCA2 mutations and the risk of esophageal squamous cell carcinoma. Oncogene, 27 (9). pp. 1290-1296. ISSN 09509232

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The incidence of esophageal squamous cell carcinoma (ESCC) is very high among the Turkmen population of Iran. Family studies suggest a genetic component to the disease. Turkmen are ethnically homogenous and are well suited for genetic studies. A previous study from China suggested that BRCA2 might play a role in the etiology of ESCC. We screened for mutations in the coding region of the BRCA2 gene in the germline DNA of 197 Turkmen patients with ESCC. A nonsense variant, K3326X, was identified in 9 of 197 cases (4.6) vs 2 of 254 controls (0.8) (OR=6.0, 95 CI=1.3-28; P=0.01). This mutation leads to the loss of the C-terminal domain of the BRCA2 protein, a part of the region of interaction with the FANCD2 protein. We observed nine other BRCA2 variants in single cases only, including two deletions, and seven missense mutations. Six of these were judged to be pathogenic. In total, a suspicious deleterious BRCA2 variant was identified in 15 of 197 ESCC cases (7.6). © 2008 Nature Publishing Group All rights reserved.

Item Type: Article
Additional Information: cited By 23
Uncontrolled Keywords: BRCA2 protein; Fanconi anemia group D2 protein, adult; article; cancer risk; cancer susceptibility; carboxy terminal sequence; esophageal squamous cell carcinoma; female; gene deletion; gene mutation; genetic code; genetic predisposition; genetic screening; genetic variability; human; major clinical study; male; missense mutation; priority journal, Adult; Aged; Aged, 80 and over; Amino Acid Substitution; BRCA2 Protein; Carcinoma, Squamous Cell; Case-Control Studies; Codon, Nonsense; Esophageal Neoplasms; Female; Genes, BRCA2; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Iran; Male; Middle Aged; Point Mutation
Subjects: کهورت
مقالات نمایه شده محققین دانشگاه در سایت ,Web of Science ,Scopus
موارد کلی
Divisions: معاونت تحقیقات و فناوری
Depositing User: GOUMS
Date Deposited: 21 Apr 2015 06:41
Last Modified: 16 Apr 2018 09:43
URI: http://eprints.goums.ac.ir/id/eprint/2592

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