New insights into the aetiology of colorectal cancer from genome-wide association studies

被引：330

作者：

Tenesa, Albert ^{[1
]}

Dunlop, Malcolm G.

机构：

[1] Univ Edinburgh, Colon Canc Genet Grp, Edinburgh EH4 2XU, Midlothian, Scotland

来源：

NATURE REVIEWS GENETICS | 2009年 / 10卷 / 06期

关键词：

GROWTH-FACTOR-BETA; JUVENILE POLYPOSIS; MICROSATELLITE INSTABILITY; SUSCEPTIBILITY LOCUS; PROSTATE-CANCER; GENETIC RISK; MUTATIONS; COMMON; SCAN; 8Q24;

D O I：

10.1038/nrg2574

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genome-wide association studies have recently identified ten common genetic variants associated with colorectal cancer susceptibility, several suggesting the involvement of components of the transforming growth factor beta (TGF beta) superfamily signalling pathway. To date, no causal sequence variants have been identified, and risk seems to be mediated through effects on gene regulation. Several markers are located close to poorly characterized genes or in gene deserts, raising challenges for elucidating mechanisms of susceptibility. Disease-associated common genetic variation offers the potential to refine risk stratification within populations and enable more targeted disease prevention strategies.

引用

页码：353 / 358

页数：6

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