Facile Detection of Mitochondrial DNA Mutations in Tumors and Bodily Fluids

  • Makiko S. Fliss
    Department of Otolaryngology–Head and Neck Surgery, Head and Neck Cancer Research Division,
  • Henning Usadel
    Department of Otolaryngology–Head and Neck Surgery, Head and Neck Cancer Research Division,
  • Otávia L. Caballero
    Department of Otolaryngology–Head and Neck Surgery, Head and Neck Cancer Research Division,
  • Li Wu
    Department of Otolaryngology–Head and Neck Surgery, Head and Neck Cancer Research Division,
  • Martin R. Buta
    Department of Otolaryngology–Head and Neck Surgery, Head and Neck Cancer Research Division,
  • Scott M. Eleff
    Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Jin Jen
    Department of Otolaryngology–Head and Neck Surgery, Head and Neck Cancer Research Division,
  • David Sidransky
    Department of Otolaryngology–Head and Neck Surgery, Head and Neck Cancer Research Division,

抄録

<jats:p>Examination of human bladder, head and neck, and lung primary tumors revealed a high frequency of mitochondrial DNA (mtDNA) mutations. The majority of these somatic mutations were homoplasmic in nature, indicating that the mutant mtDNA became dominant in tumor cells. The mutated mtDNA was readily detectable in paired bodily fluids from each type of cancer and was 19 to 220 times as abundant as mutated nuclear p53 DNA. By virtue of their clonal nature and high copy number, mitochondrial mutations may provide a powerful molecular marker for noninvasive detection of cancer.</jats:p>

収録刊行物

  • Science

    Science 287 (5460), 2017-2019, 2000-03-17

    American Association for the Advancement of Science (AAAS)

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