Prevalence of the APC E1317Q variant in colorectal cancer patients

Prevalence of the APC E1317Q variant in colorectal cancer patients
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DOI:
10.1016/s0304-3835(99)00360-2
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发表时间:
2000-02-28
期刊:
影响因子:
9.7
通讯作者:
Houlston, R
Houlston, R
中科院分区:
医学1区
文献类型:
--
作者:
Popat, S;Stone, J;Houlston, R

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对I1307K多态的研究支持了APC的一些常见变种可能导致结直肠癌风险增加的观点。最近有人提出,E1317Q变异也与风险增加有关。我们研究了364例结直肠癌患者和290名对照中E1317Q的患病率。两名患者被证实携带E1317Q。两人都没有结直肠癌家族史或共存的腺瘤性息肉。两个控制装置也搭载了E1317Q。这一发现表明,除了结直肠癌风险的适度增加,E1317Q不太可能与任何其他因素有关。(C)2000爱思唯尔爱尔兰科学有限公司。保留所有权利。
The notion that some common variants of APC might confer an increased colorectal tumour risk is supported by studies of the I1307K polymorphism. Recently it has been proposed that the E1317Q variant is also associated with an increased risk. We have studied the prevalence of E1317Q in 364 colorectal cancer patients and in 290 controls. Two patients were shown to possess E1317Q. Neither had a family history of colorectal cancer or co-existent adenomatous polyps. Two controls also carried E1317Q. This finding suggests that E1317Q is unlikely to be associated with anything more than a moderate increase in risk of colorectal cancer. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.