Extrachromosomal oncogene amplification in tumour pathogenesis and evolution

Roel G W Verhaak, Vineet Bafna, Paul S Mischel

Research output: Contribution to journalReview articleAcademicpeer-review


Recent reports have demonstrated that oncogene amplification on extrachromosomal DNA (ecDNA) is a frequent event in cancer, providing new momentum to explore a phenomenon first discovered several decades ago. The direct consequence of ecDNA gains in these cases is an increase in DNA copy number of the oncogenes residing on the extrachromosomal element. A secondary effect, perhaps even more important, is that the unequal segregation of ecDNA from a parental tumour cell to offspring cells rapidly increases tumour heterogeneity, thus providing the tumour with an additional array of responses to microenvironment-induced and therapy-induced stress factors and perhaps providing an evolutionary advantage. This Perspectives article discusses the current knowledge and potential implications of oncogene amplification on ecDNA in cancer.

Original languageEnglish
Pages (from-to)283-288
Number of pages6
JournalNature Reviews Cancer
Issue number5
Publication statusPublished - May 2019


  • Animals
  • Chromosomes/genetics
  • DNA Copy Number Variations/genetics
  • Gene Amplification/genetics
  • Humans
  • Neoplasms/genetics
  • Oncogenes/genetics
  • Tumor Microenvironment/genetics

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