Utility of genome-wide association study findings: prostate cancer as a translational research paradigm.
Utility of genome-wide association study findings: prostate cancer as a translational research paradigm.
复制标题
全基因组关联研究结果的效用：前列腺癌作为转化研究范式。
DOI：
10.1111/j.1365-2796.2012.02522.x
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发表时间：
2012
影响因子：
11.1
通讯作者：
Xu,J
中科院分区：
文献类型：
--
作者：
Turner,AR;Kader,AK;Xu,J
Turner AR，Kader AK，Xu J（维克森林大学，Winston‐Salem，NC;和加州圣地亚哥大学，拉霍亚，CA;美国）。全基因组关联研究发现的效用：前列腺癌作为一种转化研究范式（综述）.J Intern Med 2012;271：344-352.Genome‐Wide Association Studies已经确定了遗传标记和复杂疾病风险之间的数千种一致复制的关联，包括癌症。单独使用这些标志物在风险预测中的实用性有限;然而，当这些标志物中的几种组合使用时，预测性能似乎与许多当前可用的临床预测因子相似。尽管如此，关于这些遗传标记在风险预测中的临床有效性和实用性存在分歧。有合理的关注，从而为新的研究路线提供了方向。在此，我们概述了这场争论，并以前列腺癌为例，强调了旨在解决潜在问题的研究中出现的证据。我们还描述了一个翻译框架，可用于指导新一代的综合研究，旨在利用这些令人兴奋的新发现的发展。
Turner AR, Kader AK, Xu J (Wake Forest University, Winston‐Salem, NC; and University of California San Diego, La Jolla, CA; USA). Utility of Genome‐Wide Association Study findings: prostate cancer as a translational research paradigm (Review).J Intern Med2012;271: 344–352.Genome‐Wide Association Studies have identified thousands of consistently replicated associations between genetic markers and complex disease risk, including cancers. Alone, these markers have limited utility in risk prediction; however, when several of these markers are used in combination, the predictive performance appears to be similar to that of many currently available clinical predictors. Despite this, there are divergent views regarding the clinical validity and utility of these genetic markers in risk prediction. There are valid concerns, thus providing a direction for new lines of research. Herein, we outline the debate and use the example of prostate cancer to highlight emerging evidence from studies that aim to address potential concerns. We also describe a translational framework that could be used to guide the development of a new generation of comprehensive research studies aimed at capitalizing on these exciting new discoveries.