Division of General Medical Sciences-Oncology, Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
Division of General Medical Sciences-Oncology, Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
J Genet Genomics. 2020 Oct 20;47(10):595-609. doi: 10.1016/j.jgg.2020.11.001. Epub 2020 Nov 28.
Genome-scale studies focusing on molecular profiling of cancers across tissue types have revealed a plethora of aberrations across the genomic, transcriptomic, and epigenomic scales. The significant molecular heterogeneity across individual tumors even within the same tissue context complicates decoding the key etiologic mechanisms of this disease. Furthermore, it is increasingly likely that biologic mechanisms underlying the pathobiology of cancer involve multiple molecular entities interacting across functional scales. This has motivated the development of computational approaches that integrate molecular measurements with prior biological knowledge in increasingly intricate ways to enable the discovery of driver genomic aberrations across cancers. Here, we review diverse methodological approaches that have powered significant advances in our understanding of the genomic underpinnings of cancer at the cohort and at the individual tumor scales. We outline the key advances and challenges in the computational discovery of cancer mechanisms while motivating the development of systems biology approaches to comprehensively decode the biologic drivers of this complex disease.
基因组规模的研究集中于跨组织类型的癌症分子谱分析,揭示了基因组、转录组和表观基因组层面上大量的异常。即使在相同的组织背景下,单个肿瘤之间的显著分子异质性也使得解码这种疾病的关键病因机制变得复杂。此外,癌症的病理生物学背后的生物学机制很可能涉及多个分子实体在功能尺度上相互作用。这促使开发了计算方法,这些方法以越来越复杂的方式将分子测量与先前的生物学知识相结合,以发现癌症中跨多种肿瘤的驱动基因组异常。在这里,我们回顾了多种方法学方法,这些方法推动了我们对癌症基因组基础的理解在队列和个体肿瘤水平上取得了重大进展。我们概述了在计算上发现癌症机制的关键进展和挑战,同时激励了系统生物学方法的发展,以全面解码这种复杂疾病的生物学驱动因素。