When Genome Maintenance Goes Badly Awry.
When Genome Maintenance Goes Badly Awry.
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DOI：
10.1016/j.molcel.2016.05.021
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发表时间：
2016-06-02
期刊：
影响因子：
16
通讯作者：
Jasin M
中科院分区：
文献类型：
--
作者：
Kass EM;Moynahan ME;Jasin M
遗传异常存在于所有类型的肿瘤中，尽管频率和类型可能会有所不同。染色体异常包括高度异常的结构，特别是显色染色体。大量测序数据的产生阐明了癌症基因组中突变负担的范围，确定了突变模式（突变特征），这有可能揭示癌症的相关性和病因，并影响治疗反应。一些突变模式显然是由于维持基因组完整性的途径中断。在这里，我们回顾了我们对癌症中发生的遗传变化和基因组维持途径的作用的理解的最新进展。
Genetic abnormalities are present in all tumor types, although the frequency and type can vary. Chromosome abnormalities include highly aberrant structures, particularly chromothriptic chromosomes. The generation of massive sequencing data has illuminated the scope of the mutational burden in cancer genomes, identifying patterns of mutations (mutation signatures), which have the potential to shed light on the relatedness and etiologies of cancers and impact therapy response. Some mutation patterns are clearly attributable to disruptions in pathways that maintain genomic integrity. Here we review recent advances in our understanding of genetic changes occurring in cancers and the roles of genome maintenance pathways.