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

653 Scopus citations

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

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    Fliss, M. S., Usadel, H., Caballero, O. L., Wu, L., Buta, M. R., Eleff, S. M., Jen, J., & 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