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超越集邮:进化与功能基因组学推动我们对癌症生物学的理解。

Beyond Stamp Collecting: Evolutionary and Functional Genomics Advance Our Understanding of Cancer Biology.

作者信息

Lachance Joseph

机构信息

School of Biological Sciences, Georgia Institute of Technology, Atlanta, Georgia.

出版信息

Cancer Res. 2021 Apr 1;81(7):1637-1638. doi: 10.1158/0008-5472.CAN-21-0146.

Abstract

In this issue of , Emami and colleagues leveraged genetic data from over 200,000 men of European descent to implicate rare alleles that are associated with prostate cancer. However, this study went beyond a simple description of statistical associations between genetic variants and cancer risk. Polygenic risk scores were applied to large cohorts from Kaiser Permanente and the UK Biobank, demonstrating the clinical utility of genetic predictors of disease risk. Furthermore, by placing their results in an evolutionary framework and integrating genetic information with functional data, the authors of this major study were able to bridge the gap between genome-wide association studies and the biological mechanisms underlying prostate cancer risk..

摘要

在本期的《 》中,埃马米及其同事利用来自20多万欧洲裔男性的基因数据,确定了与前列腺癌相关的罕见等位基因。然而,这项研究不仅仅是简单描述基因变异与癌症风险之间的统计关联。多基因风险评分被应用于凯撒医疗集团和英国生物银行的大型队列研究,证明了疾病风险基因预测指标的临床实用性。此外,通过将研究结果置于进化框架中,并将基因信息与功能数据相结合,这项重要研究的作者得以弥合全基因组关联研究与前列腺癌风险背后生物学机制之间的差距。

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