Willis Nicholas A, Rass Emilie, Scully Ralph
Department of Medicine, Division of Hematology Oncology and Cancer Research Institute, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston MA 02215.
Trends Cancer. 2015 Dec 1;1(4):217-230. doi: 10.1016/j.trecan.2015.10.007.
Chromosome rearrangement plays a causal role in tumorigenesis by contributing to the inactivation of tumor suppressor genes, the dysregulated expression or amplification of oncogenes and the generation of novel gene fusions. Chromosome breaks are important intermediates in this process. How, when and where these breaks arise and the specific mechanisms engaged in their repair strongly influence the resulting patterns of chromosome rearrangement. Here, we review recent progress in understanding how certain distinctive features of the cancer genome, including clustered mutagenesis, tandem segmental duplications, complex breakpoints, chromothripsis, chromoplexy and chromoanasynthesis may arise.
染色体重排在肿瘤发生过程中起着因果作用,它会导致肿瘤抑制基因失活、原癌基因表达失调或扩增以及产生新的基因融合。染色体断裂是这一过程中的重要中间体。这些断裂如何、何时以及在何处出现,以及参与其修复的具体机制,强烈影响最终的染色体重排模式。在这里,我们综述了在理解癌症基因组的某些独特特征如何产生方面的最新进展,这些特征包括成簇诱变、串联节段重复、复杂断点、染色体碎裂、染色体缠结和染色体合成分析。