遗传性非息肉病性大肠癌的研究进展
遗传性非息肉病性大肠癌;错配修复基因;微卫星不稳定,顾国利,周晓武,王石林,通讯作者:,Clinicalprospectsandresearchprogressinhereditarynon-polyposiscolorectalcancer,Guo-LiGu
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顾国利, 周晓武, 王石林, 中国人民解放军空军总医院普通外科 北京市 100036
通讯作者: 王石林, 100036, 北京市海淀区阜成路30号, 中国人民解放军空军总医院普通外科. wangshilin@medmail.com.cn
电话: 010-66928302
收稿日期: 2007-07-02 修回日期: 2007-10-10
Clinical prospects and research progress in hereditary non-polyposis colorectal cancer
Guo-Li Gu, Xiao-Wu Zhou, Shi-Lin Wang
Guo-Li Gu, Xiao-Wu Zhou, Shi-Lin Wang, Department of General Surgery, General Hospital of Chinese PLA Air Force, Beijing 100036, China
Correspondence to: Shi-Lin Wang, Department of General Surgery, General Hospital of Chinese PLA Air Force, Beijing 100036, China. wangshilin@medmail.com.cn
Received: 2007-07-02 Revised: 2007-10-10
Abstract
Hereditary non-polyposis colorectal cancer (HNPCC), also called Lynch syndrome, is an autosomal-dominantly inherited disease and is associated with germline mutations in mismatch repair (MMR) genes and microsatellite instability (MSI). HNPCC is the most common form of hereditary colorectal cancer, accounting for 5%–15% of colorectal cancers. HNPCC has characteristic clinicpathological features, such as right-sided predominance, more synchronous or metachronous multiple primary colorectal cancer, young age at diagnosis, and poor histopathological differentiation. Recently, surgery has been the main means of treating HNPCC. However, COX-2 inhibitors may be a new therapeutic approach. Recent molecular biology studies have deepened our understanding of its the biological behavior and therapy.
Key Words: Hereditary non-polyposis colorectal cancer; Mismatch repair genes; Microsatellite instability
Gu GL, Zhou XW, Wang SL. Clinical prospects and research progress in hereditary non-polyposis colorectal cancer. Shijie Huaren Xiaohua Zazhi 2007; 15(29): 3115-3121
摘要
遗传性非息肉病性大肠癌(HNPCC)是一种由错配修复基因(MMR)突变造成的常染色体显性遗传病, 又称Lynch综合征, 是遗传性大肠癌的代表. HNPCC约占全部大肠癌的5%-15%. 错配修复基因(MMR)的种系突变和微卫星不稳定(MSI)是其分子遗传学基础. HNPCC的临床病理特点突出, 具有右半结肠多见、发病早、病理分化差、多原发癌多见的特点 ......
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