Facile detection of mitochondrial DNA mutations in tumors and bodily fluids

Makiko S. Fliss, Henning Usadel, Otàvia L. Caballero, Li Wu, Martin R. Buta, Scott M. Eleff, Jin Jen, David Sidransky

Research output: Contribution to journalArticle

643 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2017-2019
Number of pages3
JournalScience
Volume287
Issue number5460
DOIs
StatePublished - Mar 17 2000
Externally publishedYes

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Mitochondrial DNA
Mutation
Neoplasms
Urinary Bladder
Neck
Head
Lung
DNA

ASJC Scopus subject areas

  • General

Cite this

Fliss, M. S., Usadel, H., Caballero, O. L., Wu, L., Buta, M. R., Eleff, S. M., ... Sidransky, D. (2000). Facile detection of mitochondrial DNA mutations in tumors and bodily fluids. Science, 287(5460), 2017-2019. https://doi.org/10.1126/science.287.5460.2017

Facile detection of mitochondrial DNA mutations in tumors and bodily fluids. / Fliss, Makiko S.; Usadel, Henning; Caballero, Otàvia L.; Wu, Li; Buta, Martin R.; Eleff, Scott M.; Jen, Jin; Sidransky, David.

In: Science, Vol. 287, No. 5460, 17.03.2000, p. 2017-2019.

Research output: Contribution to journalArticle

Fliss, MS, Usadel, H, Caballero, OL, Wu, L, Buta, MR, Eleff, SM, Jen, J & Sidransky, D 2000, 'Facile detection of mitochondrial DNA mutations in tumors and bodily fluids', Science, vol. 287, no. 5460, pp. 2017-2019. https://doi.org/10.1126/science.287.5460.2017
Fliss MS, Usadel H, Caballero OL, Wu L, Buta MR, Eleff SM et al. Facile detection of mitochondrial DNA mutations in tumors and bodily fluids. Science. 2000 Mar 17;287(5460):2017-2019. https://doi.org/10.1126/science.287.5460.2017
Fliss, Makiko S. ; Usadel, Henning ; Caballero, Otàvia L. ; Wu, Li ; Buta, Martin R. ; Eleff, Scott M. ; Jen, Jin ; Sidransky, David. / Facile detection of mitochondrial DNA mutations in tumors and bodily fluids. In: Science. 2000 ; Vol. 287, No. 5460. pp. 2017-2019.
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