DOI: 10.1515/mr-2021-0025
Polygenic risk scores:the future of cancer risk prediction,screening,and precision prevention
Yuzhuo Wang1
Meng Zhu2
Hongxia Ma3
Hongbing Shen4
1.Department of Epidemiology,Center for Global Health,School of Public Health,Nanjing Medical University,Nanjing,Jiangsu,China;Department of Medical Informatics,School of Biomedical Engineering and Informatics,Nanjing Medical University,Nanjing,Jiangsu,China2.Department of Epidemiology,Center for Global Health,School of Public Health,Nanjing Medical University,Nanjing,Jiangsu,China;Jiangsu Key Lab of Cancer Biomarkers,Prevention and Treatment,Collaborative Innovation Center for Cancer Personalized Medicine,Nanjing Medical University,Nanjing,Jiangsu,China3.Department of Epidemiology,Center for Global Health,School of Public Health,Nanjing Medical University,Nanjing,Jiangsu,China;Jiangsu Key Lab of Cancer Biomarkers,Prevention and Treatment,Collaborative Innovation Center for Cancer Personalized Medicine,Nanjing Medical University,Nanjing,Jiangsu,China;Research Units of Cohort Study on Cardiovascular Diseases and Cancers,Chinese Academy of Medical Sciences,Beijing,China4.Department of Epidemiology,Center for Global Health,School of Public Health,Nanjing Medical University,Nanjing 211166,Jiangsu,China;Jiangsu Key Lab of Cancer Biomarkers,Prevention and Treatment,Collaborative Innovation Center for Cancer Personalized Medicine,Nanjing Medical University,Nanjing 211166,Jiangsu,China;Research Units of Cohort Study on Cardiovascular Diseases and Cancers,Chinese Academy of Medical Sciences,Beijing 100010,China
摘要：Genome-wide association studies(GWASs)have shown that the genetic architecture of cancers are highly polygenic and enabled researchers to identify genetic risk loci for cancers.The genetic variants associated with a cancer can be combined into a polygenic risk score(PRS),which captures part of an individual's genetic suscepti-bility to cancer.Recently,PRSs have been widely used in cancer risk prediction and are shown to be capable of identifying groups of individuals who could benefit from the knowledge of their probabilistic susceptibility to can-cer,which leads to an increased interest in understanding the potential utility of PRSs that might further refine the assessment and management of cancer risk.In this context,we provide an overview of the major discoveries from cancer GWASs.We then review the methodologies used for PRS construction,and describe steps for the development and evaluation of risk prediction models that include PRS and/or conventional risk factors.Potential utility of PRSs in cancer risk prediction,screening,and precision prevention are illustrated.Challenges and prac-tical considerations relevant to the implementation of PRSs in health care settings are discussed.
机标关键词：predictionprecisionscreeningfutureriskcancerpolygenicprevention
论文发表日期：2021-04-28
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：21( 129-149 )
英文信息