Current understanding of mitochondrial DNA in breast cancer

Breast J. Sep-Oct 2009;15(5):505-9. doi: 10.1111/j.1524-4741.2009.00767.x. Epub 2009 Jul 13.


The recent surge in mitochondrial research has been driven by the identification of mitochondria-associated diseases and the role of mitochondria in apoptosis and aging. Mitochondrial DNA (mtDNA) has been proposed to be involved in carcinogenesis because of its high susceptibility to mutations and limited repair mechanisms in comparison to nuclear DNA. As mtDNA lacks introns, it has been suggested that most mutations will occur in coding sequences. The subsequent accumulation of mutations may lead to tumor formation. By virtue of their clonal nature, high copy number and high frequent mutations may provide a powerful molecular biomarker for the detection of cancer. It has been suggested that the extent of mtDNA mutations might be useful in the prognosis of cancer outcome and/or the response to certain therapies. In this review article, we aim to provide a brief summary of our current understanding of mitochondrial genetics and biology, review the mtDNA alterations reported in breast cancer, and offer some perspectives as to the emergence of mtDNA mutations, including their functional consequences in cancer development, diagnostic criteria, and therapeutic implications.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • Breast Neoplasms / genetics*
  • Colonic Neoplasms / genetics
  • Cytochromes b / genetics
  • DNA, Mitochondrial / genetics*
  • DNA, Neoplasm / genetics
  • Electron Transport Complex IV / genetics
  • Female
  • Genetic Markers / genetics
  • Humans
  • Kidney Neoplasms / genetics
  • Mitochondrial Proton-Translocating ATPases / genetics
  • Mutation
  • Oxidative Phosphorylation Coupling Factors / genetics
  • Stomach Neoplasms / genetics


  • Biomarkers, Tumor
  • DNA, Mitochondrial
  • DNA, Neoplasm
  • Genetic Markers
  • Oxidative Phosphorylation Coupling Factors
  • Cytochromes b
  • Electron Transport Complex IV
  • F(6) ATPase
  • Mitochondrial Proton-Translocating ATPases