Clinical validity and utility of genetic risk scores in prostate cancer
Clinical validity and utility of genetic risk scores in prostate cancer作者机构：Department of Surgery NorthShore University HealthSystem Program for Personalized Cancer Care Evanston IL 60201 USA.
出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志（英文版）)
年 卷 期：2016年第18卷第4期
页 面：509-514页
核心收录：
学科分类：0710[理学-生物学] 1002[医学-临床医学] 07[理学] 1011[医学-护理学（可授医学、理学学位）] 071007[理学-遗传学] 10[医学]
主 题：genetic risk score prostate cancer pyramid model single nucleotide polymorphisms
摘 要：Current issues related to prostate cancer （PCa） clinical care （e.g., over-screening, over-diagnosis, and over-treatment of nonaggressive PCa） call for risk assessment tools that can be combined with family history （FH） to stratify disease risk among men in the general population. Since 2007, genome-wide association studies （GWASs） have identified more than 100 SNPs associated with PCa susceptibility. In this review, we discuss （1） the validity of these PCa risk-associated SNPs, individually and collectively; （2） the various methods used for measuring the cumulative effect of multiple SNPs, including genetic risk score （GRS）; （3） the adequate number of SNPs needed for risk assessment; （4） reclassification of risk based on evolving numbers of SNPs used to calculate genetic risk, （5） risk assessment for men from various racial groups, and （6） the clinical utility of genetic risk assessment. In conclusion, data available to date support the clinical validity of PCa risk-associated SNPs and GRS in risk assessment among men with or without FH. PCa risk-associated SNPs are not intended for diagnostic use; rather, they should be used the same way as FH. Combining GRS and FH can significantly improve the performance of risk assessment. Improved risk assessment may have important clinical utility in targeted PCa testing. However, clinical trials are urgently needed to evaluate this clinical utility as well as the acceptance of GRS by patients and physicians.
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