Mitochondrial DNA copy number variation across human cancers

Ed Reznik, Martin L. Miller, Yasin Şenbabaoğlu, Nadeem Riaz, Judy Sarungbam, Satish K. Tickoo, Hikmat A. Al-Ahmadie, William Lee, Venkatraman E. Seshan, A. Ari Hakimi, Chris Sander

Research output: Contribution to journalArticlepeer-review

347 Scopus citations


Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are observed throughout cancers. Here, we survey mtDNA copy number variation across 22 tumor types profiled by The Cancer Genome Atlas project. We observe a tendency for some cancers, especially of the bladder, breast, and kidney, to be depleted of mtDNA, relative to matched normal tissue. Analysis of genetic context reveals an association between incidence of several somatic alterations, including IDH1 mutations in gliomas, and mtDNA content. In some but not all cancer types, mtDNA content is correlated with the expression of respiratory genes, and anti- correlated to the expression of immune response and cell-cycle genes. In tandem with immunohistochemical evidence, we find that some tumors may compensate for mtDNA depletion to sustain levels of respiratory proteins. Our results highlight the extent of mtDNA copy number variation in tumors and point to related therapeutic opportunities.

Original languageEnglish (US)
Article numbere10769
Issue numberFEBRUARY2016
StatePublished - Feb 22 2016
Externally publishedYes

ASJC Scopus subject areas

  • General Neuroscience
  • General Immunology and Microbiology
  • General Biochemistry, Genetics and Molecular Biology


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