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[与结肠癌风险相关的低外显率等位基因的鉴定]

[Identification of low-penetrance alleles associated with colon cancer risk].

作者信息

Houlston Richard

机构信息

ICR, Royaume-Uni, Section of Cancer, Genetics Institute of Cancer Research, 15 Cotswold Road Belmont, Sutton SM2 5NG.

出版信息

Med Sci (Paris). 2009 Mar;25 Spec No 1:39-41. doi: 10.1051/medsci/2009251s39.

Abstract

Colorectal cancer affects over 500,000 individuals yearly. Much of the benefit of colorectal cancer screening has been attributed to detection and removal of adenomatous polyps, highlighting the importance of colorectal polyps as targets for intervention and as biomarkers for colorectal cancer risk. Positive familial history (first or second degree relative) for colorectal carcinoma can be found in approximately 30% of all newly diagnosed cases, but less than 5% will be due to a defined genetic category of hereditary CRC. Genome-wide association studies have identified multiple loci at which common variants modestly influence the risk of developing colorectal cancer. The risks conferred by the susceptibility alleles are low. The combined effects may, however, be sufficiently large to be useful for risk prediction, and targeted screening and prevention, particularly as more loci are identified.

摘要

每年有超过50万人受到结直肠癌的影响。结直肠癌筛查的大部分益处都归因于腺瘤性息肉的检测和切除,这凸显了结直肠息肉作为干预靶点和结直肠癌风险生物标志物的重要性。在所有新诊断的病例中,约30%可发现有结直肠癌的阳性家族史(一级或二级亲属),但其中不到5%是由明确的遗传性结直肠癌基因类别引起的。全基因组关联研究已经确定了多个位点,常见变异在这些位点上对患结直肠癌的风险有适度影响。易感等位基因带来的风险较低。然而,这些综合效应可能足够大,可用于风险预测以及有针对性的筛查和预防,特别是随着更多位点被识别出来。

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