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Mitochondrial DNA Copy Number Alterations in Human Cancers

  1. Man Yu

Published Online: 15 NOV 2012

DOI: 10.1002/9780470015902.a0024873



How to Cite

Yu, M. 2012. Mitochondrial DNA Copy Number Alterations in Human Cancers. eLS.

Author Information

  1. University Health Network and University of Toronto, Ontario Cancer Institute/Princess Margaret Hospital, Toronto, Ontario, Canada

Publication History

  1. Published Online: 15 NOV 2012


Mitochondria are cytoplasmic organelles that participate in adenosine triphosphate (ATP) production through respiration and oxidative phosphorylation (OXPHOS), free radical formation and execution of apoptosis. Perturbation of mitochondrial function has been proposed as one vital hallmark of cancer cells. Besides plenty of germline and polymorphic sequence variations accumulated in both coding and noncoding regions of the mitochondrial genome (mitochondrial deoxyribonucleic acid (DNA); mtDNA), increased or reduced mtDNA copy number has also been increasingly described in a plethora of primary human malignancies. Altered mtDNA quantity may act as an important player in the multistep carcinogenesis of at least some types of human cancer by fuelling tumour initiation and/or advancement. In addition, mtDNA content turnover in bodily liquids from cancer patients could be exploited as a novel molecular tool for early cancer screening and diagnosis.

Key Concepts:

  • Disruption of mitochondrial function and the oxidative phosphorylation system may lead to cancer occurrence and development.

  • MtDNA copy number changes have been frequently observed in a wide range of human malignancies.

  • Aberrant mtDNA quantity is correlated with many key clinicopathological features of cancer patients.

  • Alterations in mtDNA copy number have potential to affect cancer cell behaviours in vitro and in vivo.

  • mtDNA content alterations could be considered as a novel biomarker for early cancer detection and diagnosis.


  • mitochondrial DNA;
  • copy number;
  • cancer;
  • carcinogenesis;
  • biomarker