文章：

癌症的多基因评分

Polygenic scores in cancer

原文发布日期：2023-07-21

DOI: 10.1038/s41568-023-00599-x

类型: Review Article

开放获取: 否

英文摘要：

Since the publication of the first genome-wide association study for cancer in 2007, thousands of common alleles that are associated with the risk of cancer have been identified. The relative risk associated with individual variants is small and of limited clinical significance. However, the combined effect of multiple risk variants as captured by polygenic scores (PGSs) may be much greater and therefore provide risk discrimination that is clinically useful. We review the considerable research efforts over the past 15 years for developing statistical methods for PGSs and their application in large-scale genome-wide association studies to develop PGSs for various cancers. We review the predictive performance of these PGSs and the multiple challenges currently limiting the clinical application of PGSs. Despite this, PGSs are beginning to be incorporated into clinical multifactorial risk prediction models to stratify risk in both clinical trials and clinical implementation studies.

摘要翻译： 

自2007年首个癌症全基因组关联研究发表以来，已有数千种与癌症风险相关的常见等位基因被识别。单个变异相关的相对风险较小，临床意义有限。然而，多基因评分所捕获的多种风险变异的联合效应可能大得多，因此可提供具有临床实用性的风险区分能力。我们回顾了过去15年间为发展多基因评分统计方法所投入的大量研究工作，及其在大型全基因组关联研究中的应用以开发多种癌症的多基因评分。我们评估了这些多基因评分的预测效能，以及当前限制其临床应用的多重挑战。尽管如此，多基因评分正开始被纳入临床多因素风险预测模型，在临床试验和临床实施研究中用于风险分层。

原文链接：

Polygenic scores in cancer