遗传性前列腺癌——基因检测的黄金时期？
Hereditary prostate cancer - Primetime for genetic testing?
机构信息
Department of Urology, Medical University Innsbruck, Innsbruck, Austria.
Department of Urology and Pediatric Urology, Mainz University Medicine, Mainz, Germany.
出版信息
Cancer Treat Rev. 2019 Dec;81:101927. doi: 10.1016/j.ctrv.2019.101927. Epub 2019 Nov 11.
Prostate cancer (PCa) remains the most common cancer in men. The proportion of all PCa attributable to high-risk hereditary factors has been estimated to 5-15%. Recent landmark discoveries in PCa genetics led to the identification of germline mutations/alterations (eg. BRCA1, BRCA2, ATM or HOXB13), single nucleotide polymorphisms or copy number variations associated with PCa incidence and progression. However, offering germline testing to men with an assumed hereditary component is currently controversial. In the present review article, we provide an overview about the epidemiology and the genetic basis of PCa predisposition and critically discuss the significance and consequence in the clinical routine. In addition, we give an overview about genetic tests and report latest findings from ongoing clinical studies. Lastly, we discuss the impact of genetic testing in personalized therapy in advanced stages of the disease.
前列腺癌（PCa）仍然是男性最常见的癌症。据估计，所有 PCa 中归因于高危遗传因素的比例为 5-15%。最近在 PCa 遗传学方面的里程碑式发现导致了与 PCa 发病和进展相关的种系突变/改变（例如 BRCA1、BRCA2、ATM 或 HOXB13）、单核苷酸多态性或拷贝数变异的鉴定。然而，目前对于具有假定遗传成分的男性提供种系检测存在争议。在本综述文章中，我们提供了 PCa 易感性的流行病学和遗传学基础的概述，并批判性地讨论了其在临床常规中的意义和后果。此外，我们还概述了遗传检测，并报告了正在进行的临床研究的最新发现。最后，我们讨论了遗传检测对疾病晚期个体化治疗的影响。
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