Genome-wide association studies in cancer

被引:173
作者
Easton, Douglas F. [1 ]
Eeles, Rosalind A. [2 ,3 ,4 ]
机构
[1] Univ Cambridge, Strangeways Res Lab, Canc Res UK Genet Epidemiol Unit, Cambridge CB1 8RN, England
[2] Inst Canc Res, Translat Canc Genet Team, Sutton SM2 5NG, Surrey, England
[3] Royal Marsden NHS Fdn Trust, Sutton SM2 5NG, Surrey, England
[4] Royal Marsden NHS Fdn Trust, London SW3 6JJ, England
关键词
D O I
10.1093/hmg/ddn287
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Genome-wide association studies (GWAS) provide a powerful approach to identify common, low-penetrance disease loci without prior knowledge of location or function. GWAS have been conducted in five of the commonest cancer types: breast, prostate, colorectal and lung, and melanoma, and have identified more than 20 novel disease loci, confirming that susceptibility to these diseases is polygenic. Many of these loci were detected at low power, indicating that many further loci will probably be detected with larger studies. For the most part, the loci were not previously suspected to be related to carcinogenesis, and point to new disease mechanisms. The risks conferred by the susceptibility alleles are low, generally 1.3-fold or less. 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.
引用
收藏
页码:R109 / R115
页数:7
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