癌症中的非编码基因变异
Non-coding genetic variation in cancer.
作者信息
Cuykendall Tawny N, Rubin Mark A, Khurana Ekta
机构信息
Department of Physiology and Biophysics, Weill Cornell Medicine, New York, New York, 10065, USA.
Institute for Computational Biomedicine, Weill Cornell Medicine, New York, New York, 10021, USA.
出版信息
Curr Opin Syst Biol. 2017 Feb;1:9-15. doi: 10.1016/j.coisb.2016.12.017. Epub 2017 Mar 4.
The vast majority of somatic variants in cancer genomes occur in non-coding regions. However, progress in cancer genomics in the past decade has been mostly focused on coding regions, largely due to the prohibitive cost of whole genome sequencing (WGS). Recent technological advances have decreased sequencing costs leading to the current acquisition of thousands of tumor whole genome sequences which has led to a hunt for non-coding drivers. The most well characterized regulatory drivers are in the promoter and have been identified in many cancer types. Despite the larger fraction of somatic variants occurring in non-coding regions, the number of non-coding drivers identified so far is much less than the number of coding region drivers. Here we discuss reasons that may hinder the detection of non-coding drivers. We also examine the relationship between non-coding genetic variation and epigenetic state in tumor cells and assert the need for additional epigenetic data sets as a prerequisite for understanding the rewiring of regulatory networks in cancer.
癌症基因组中的绝大多数体细胞变异发生在非编码区域。然而，过去十年癌症基因组学的进展主要集中在编码区域，这在很大程度上是由于全基因组测序（WGS）成本过高。最近的技术进步降低了测序成本，使得目前能够获得数千个肿瘤全基因组序列，从而引发了对非编码驱动因素的探索。特征最明确的调控驱动因素位于启动子区域，并且已在多种癌症类型中得到鉴定。尽管体细胞变异在非编码区域中占比较大，但到目前为止，已鉴定出的非编码驱动因素的数量远少于编码区域驱动因素的数量。在此，我们讨论可能阻碍非编码驱动因素检测的原因。我们还研究了肿瘤细胞中非编码遗传变异与表观遗传状态之间的关系，并断言需要额外的表观遗传数据集作为理解癌症中调控网络重新布线的先决条件。
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