التفاصيل البيبلوغرافية
| العنوان: |
A novel nonsense mutation of MSH2gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer |
| المؤلفون: |
Chen, Wen-Chau, Lin, Shao-Chieh, Lee, Jenq-Chang, 陳文超, 林劭潔, 李政昌 |
| المصدر: |
The Kaohsiung Journal of Medical Sciences; February 2011, Vol. 27 Issue: 2 p68-71, 4p |
| مستخلص: |
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease predisposing to the development of colorectal cancers and several other malignancies (endometrium, ovaries, stomach, small bowel, hepatobiliary, and urinary tract). HNPCC is caused by germline mutations in any of the mismatch repair genes. Mutations in MLH1and MSH2account for almost 90% of all identified ones. Here, we report a Taiwanese family with HNPCC and mutation analysis revealed a novel nonsense mutation (S611X) in MSH2gene. |
| قاعدة البيانات: |
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