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Trends Cancer. 2015 Dec 1;1(4):217-230.

Deciphering the Code of the Cancer Genome: Mechanisms of Chromosome Rearrangement.

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Department of Medicine, Division of Hematology Oncology and Cancer Research Institute, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston MA 02215.


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.

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