Role of Mitochondrial DNA (mtDNA) Variations in Cancer Development: A Systematic Review

Cancer Invest. 2020 Aug;38(7):375-393. doi: 10.1080/07357907.2020.1797768. Epub 2020 Jul 29.


mtDNA is the closed circular, ds-DNA present in mitochondria of eukaryotic cells and are inherited maternally. Besides being the power house of the cell, mitochondria are also responsible for the regulation of redox homeostasis, signaling, metabolism, immunity, survival and apoptosis. Lack of a 'Systematic Review' on mtDNA variations and cancers encouraged us to perform the present study. Pubmed', 'Embase' and 'Cochrane Library' databases were searched using keywords 'Mitochondrial DNA' OR 'mtDNA' OR 'mDNA' AND 'polymorphism' AND 'cancer' AND 'risk' to retrieve literature. Polymorphisms occupy first rank among mtDNA variations followed by CNV, MSI, mutations and hold a great potential to emerge as key predictors for human cancers.

Keywords: Mitochondrial DNA; cancer; polymorphism.

Publication types

  • Systematic Review

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Male
  • Mitochondria / genetics
  • Mitochondria / metabolism
  • Mitochondria / pathology
  • Mutation
  • Neoplasms / genetics*
  • Polymorphism, Genetic*


  • DNA, Mitochondrial