Polygenic scores in cancer

IF 72.5 1区 医学 Q1 ONCOLOGY
Xin Yang, Siddhartha Kar, Antonis C. Antoniou, Paul D. P. Pharoah
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引用次数: 1

Abstract

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. Since the advent of genome-wide association studies, thousands of common alleles have been linked with the risk of cancer. Here, Yang et al. review the development, utility and predictive power of polygenic risk scores and the ongoing debate about their potential for clinical application in cancer.

Abstract Image

Abstract Image

癌症的多基因评分。
自2007年发表第一项癌症全基因组关联研究以来,已鉴定出数千种与癌症风险相关的常见等位基因。与个体变异相关的相对风险很小,临床意义有限。然而,多基因评分(PGSs)捕捉到的多种风险变体的综合效应可能要大得多,因此提供了临床有用的风险区分。我们回顾了过去15年来为开发PGS的统计方法所做的大量研究工作,以及它们在大规模全基因组关联研究中的应用,以开发各种癌症的PGS。我们回顾了这些PGS的预测性能以及目前限制PGS临床应用的多重挑战。尽管如此,PGS开始被纳入临床多因素风险预测模型,以在临床试验和临床实施研究中对风险进行分层。
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来源期刊
Nature Reviews Cancer
Nature Reviews Cancer 医学-肿瘤学
CiteScore
111.90
自引率
0.40%
发文量
97
审稿时长
6-12 weeks
期刊介绍: Nature Reviews Cancer, a part of the Nature Reviews portfolio of journals, aims to be the premier source of reviews and commentaries for the scientific communities it serves. The correct abbreviation for abstracting and indexing purposes is Nat. Rev. Cancer. The international standard serial numbers (ISSN) for Nature Reviews Cancer are 1474-175X (print) and 1474-1768 (online). Unlike other journals, Nature Reviews Cancer does not have an external editorial board. Instead, all editorial decisions are made by a team of full-time professional editors who are PhD-level scientists. The journal publishes Research Highlights, Comments, Reviews, and Perspectives relevant to cancer researchers, ensuring that the articles reach the widest possible audience due to their broad scope.
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