Demichelis Francesca, Stanford Janet L
Centre for Integrative Biology, University of Trento, Trento, Italy; Institute for Computational Biomedicine, Weill Medical College of Cornell University, New York, NY; Institute for Precision Medicine, Weill Medical College of Cornell University and New York Presbyterian Hospital, New York, NY.
Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA; Department of Epidemiology, School of Public Health, University of Washington, Seattle, WA.
Urol Oncol. 2015 Feb;33(2):75-84. doi: 10.1016/j.urolonc.2014.04.021. Epub 2014 Jul 2.
Prostate cancer is the second most frequent cancer in men worldwide and kills over 250,000 men worldwide every year. Prostate cancer is a heterogeneous disease at the clinical and the molecular level. The Scandinavian Twin Registry Study demonstrated that in contrast to most malignancies where environment was the overriding influence, heritable factors account for more than fifty percent of prostate cancers.
We review the literature on prostate cancer risk variants (rare and common) including SNPs and Copy Number Variants (CNVs) and discuss the potential implications of significant variants for prostate cancer patient care.
The search for prostate cancer susceptibility genes has included both family-based studies and case-control studies utilizing a variety of approaches from array-based to sequencing-based studies. A major challenge is to identify genetic variants associated with more aggressive, potentially lethal prostate cancer and to understand their role in the progression of the disease.
Future risk models useful in the clinical setting will likely incorporate several risk loci rather than single variants and may be dependent on an individual patient's ethnic background.
前列腺癌是全球男性中第二常见的癌症,每年在全球导致超过25万男性死亡。前列腺癌在临床和分子水平上是一种异质性疾病。斯堪的纳维亚双胞胎登记研究表明,与大多数以环境为主要影响因素的恶性肿瘤不同,遗传因素在前列腺癌中占比超过50%。
我们回顾了关于前列腺癌风险变异(罕见和常见)的文献,包括单核苷酸多态性(SNPs)和拷贝数变异(CNVs),并讨论了重要变异对前列腺癌患者护理的潜在影响。
对前列腺癌易感基因的研究包括基于家系的研究和病例对照研究,采用了从基于阵列到基于测序的各种方法。一个主要挑战是识别与更具侵袭性、潜在致命性前列腺癌相关的遗传变异,并了解它们在疾病进展中的作用。
未来在临床环境中有用的风险模型可能会纳入多个风险位点而不是单个变异,并且可能取决于个体患者的种族背景。