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Mechanisms and Consequences of Cancer Genome Instability: Lessons from Genome Sequencing Studies.
Annual Review of Pathology: Mechanisms of Disease ( IF 36.2 ) Pub Date : 2016-02-26 , DOI: 10.1146/annurev-pathol-012615-044446
June-Koo Lee 1 , Yoon-La Choi 2, 3 , Mijung Kwon 4, 5 , Peter J Park 6
Affiliation  

During tumor evolution, cancer cells can accumulate numerous genetic alterations, ranging from single nucleotide mutations to whole-chromosomal changes. Although a great deal of progress has been made in the past decades in characterizing genomic alterations, recent cancer genome sequencing studies have provided a wealth of information on the detailed molecular profiles of such alterations in various types of cancers. Here, we review our current understanding of the mechanisms and consequences of cancer genome instability, focusing on the findings uncovered through analysis of exome and whole-genome sequencing data. These analyses have shown that most cancers have evidence of genome instability, and the degree of instability is variable within and between cancer types. Importantly, we describe some recent evidence supporting the idea that chromosomal instability could be a major driving force in tumorigenesis and cancer evolution, actively shaping the genomes of cancer cells to maximize their survival advantage.

中文翻译:

癌症基因组不稳定性的机制和后果:基因组测序研究的教训。

在肿瘤进化过程中,癌细胞可以积累许多遗传改变,从单核苷酸突变到全染色体改变。尽管在过去的几十年中,在表征基因组改变方面已经取得了很大进展,但是最近的癌症基因组测序研究已经提供了有关各种类型癌症中这种改变的详细分子概况的大量信息。在这里,我们回顾我们对癌症基因组不稳定性的机制和后果的当前理解,重点是通过对外显子组和全基因组测序数据的分析发现的发现。这些分析表明,大多数癌症都有基因组不稳定性的证据,并且不稳定性的程度在癌症类型之内和之间是可变的。重要的,
更新日期:2019-11-01
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