低外显率生殖系基因检测:前列腺癌筛查风险分层的作用和临床实践的例子。

Reviews in urology Pub Date : 2020-01-01
Franklin Gaylis, Kelly K Bree, Paul Dato, Gerald L Andriole, Christopher J Kane, A Karim Kader
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引用次数: 0

摘要

广泛的前列腺特异性抗原(PSA)筛查挽救了生命,但付出了巨大的人力和财力代价。减轻这种危害,同时保持并可能提高益处的一种方法是将筛查工作集中在高风险男性身上。由于年龄、种族和家族史是唯一的风险因素,许多男性缺乏任何可靠的数据来告知他们的前列腺癌(PCa)筛查决策。包括以往阴性活检史、阴性和/或模棱两可的mpMRI结果的解释以及患者合并症的复杂性进一步加剧了围绕前列腺癌筛查和早期检测的复杂决策。作者提出的案例提供了基于单核苷酸多态性的测试如何为患者和提供者提供个性化PCa风险评估的现实世界的例子,并允许开发改进的风险分层筛查方案。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Low Penetrance Germline Genetic Testing: Role for Risk Stratification in Prostate Cancer Screening and Examples From Clinical Practice.

Broad-based prostate-specific antigen (PSA) screening has saved lives but at a substantial human and financial cost. One way of mitigating this harm, while maintaining and possibly improving the benefit, is by focusing screening efforts on men at higher risk. With age, race, and family history as the only risk factors, many men lack any reliable data to inform their prostate cancer (PCa) screening decisions. Complexities including history of previous negative biopsies, interpretation of negative and/or equivocal mpMRI findings, and patient comorbidities further compound the already complicated decisions surrounding PCa screening and early detection. The authors present cases that provide real-world examples of how a single nucleotide polymorphism-based test can provide patients and providers with personalized PCa risk assessments and allow for development of improved risk-stratified screening regimens.

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