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散发性和家族性结直肠癌中hMSH2基因内含子剪接受体位点多态性

Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer.

作者信息

Palicio M, Blanco I, Tórtola S, González I, Marcuello E, Brunet J, Lluis F, González-Aguilera J J, Peinado M A, Capella G

机构信息

Laboratori d'Investigació Gastrointestinal, Institut de Recerca, Hospital de Sant Pau, Barcelona, Spain.

出版信息

Br J Cancer. 2000 Feb;82(3):535-7. doi: 10.1054/bjoc.1999.0959.

Abstract

A polymorphism in hMSH2 gene has been associated with an increased susceptibility to develop colorectal cancer (CRC). Here we show that it is a genetic risk factor for CRC in the Spanish population. However, its presence does not apparently affect hMSH2 function.

摘要

hMSH2基因中的一种多态性与患结直肠癌(CRC)的易感性增加有关。在此我们表明,它是西班牙人群中结直肠癌的一个遗传风险因素。然而,它的存在显然并不影响hMSH2的功能。

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本文引用的文献

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An intronic germline transition in the HNPCC gene hMSH2 is associated with sporadic colorectal cancer.
Eur J Cancer. 1997 Oct;33(11):1869-74. doi: 10.1016/s0959-8049(97)00219-0.
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