Extrachromosomal DNA: An Emerging Hallmark in Human Cancer

Sihan Wu, Vineet Bafna, Howard Y. Chang, Paul S. Mischel

Research output: Contribution to journalReview articlepeer-review

15 Scopus citations


Human genes are arranged on 23 pairs of chromosomes, but in cancer, tumor-promoting genes and regulatory elements can free themselves from chromosomes and relocate to circular, extrachromosomal pieces of DNA (ecDNA). ecDNA, because of its nonchromosomal inheritance, drives high-copy-number oncogene amplification and enables tumors to evolve their genomes rapidly. Furthermore, the circular ecDNA architecture fundamentally alters gene regulation and transcription, and the higher-order organization of ecDNA contributes to tumor pathogenesis. Consequently, patients whose cancers harbor ecDNA have significantly shorter survival. Although ecDNA was first observed more than 50 years ago, its critical importance has only recently come to light. In this review, we discuss the current state of understanding of how ecDNAs form and function as well as how they contribute to drug resistance and accelerated cancer evolution.

Original languageEnglish (US)
Pages (from-to)367-386
Number of pages20
JournalAnnual Review of Pathology: Mechanisms of Disease
StatePublished - 2021


  • cancer genomics
  • ecDNA
  • extrachromosomal DNA
  • gene amplification
  • non-Mendelian inheritance
  • tumor evolution

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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