Mechanisms and Consequences of Cancer Genome Instability: Lessons from Genome Sequencing Studies

June Koo Lee, Yoon La Choi, Mijung Kwon, Peter J. Park

Research output: Contribution to journalArticlepeer-review

98 Scopus citations


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.

Original languageEnglish
Pages (from-to)283-312
Number of pages30
JournalAnnual Review of Pathology: Mechanisms of Disease
StatePublished - 23 May 2016

Bibliographical note

Funding Information:
J.L. is supported by a fellowship (NRF-2013H1A2A1032691) from the National Research Foundation of Korea

Publisher Copyright:
© 2016 by Annual Reviews. All rights reserved.


  • Aneuploidy
  • Cancer evolution
  • Chromosomal instability
  • Chromosomal rearrangement
  • Hypermutation
  • Microsatellite instability


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