生物
错义突变
生殖系
遗传学
种系突变
BRCA2蛋白
突变
癌症研究
人口
无义突变
基因
人口学
社会学
作者
Mohammad R. Akbari,Reza Malekzadeh,Dariush Nasrollahzadeh,Dayan Amanian,Farhad Islami,S Li,Inuk Zandvakili,Ramin Shakeri,Masoud Sotoudeh,Karim Aghcheli,Rasool Salahi,Akram Pourshams,Shahryar Semnani,Paolo Boffetta,Sanford M. Dawsey,P Ghadirian,Steven A. Narod
出处
期刊:Oncogene
[Springer Nature]
日期:2007-08-27
卷期号:27 (9): 1290-1296
被引量:88
标识
DOI:10.1038/sj.onc.1210739
摘要
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%).
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