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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Substitution
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Body Fluids / chemistry*
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Bronchoalveolar Lavage Fluid / chemistry
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DNA, Mitochondrial / analysis
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DNA, Mitochondrial / genetics*
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DNA, Mitochondrial / urine
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DNA, Neoplasm / analysis
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DNA, Neoplasm / genetics*
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DNA, Neoplasm / urine
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Genes, p53
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Head and Neck Neoplasms / diagnosis
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Head and Neck Neoplasms / genetics
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Humans
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Lung Neoplasms / diagnosis
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Lung Neoplasms / genetics
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Mutation*
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Neoplasms / diagnosis
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Neoplasms / genetics*
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Point Mutation
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Polymerase Chain Reaction
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Polymorphism, Genetic
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Saliva / chemistry
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Sequence Deletion
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Urinary Bladder Neoplasms / diagnosis
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Urinary Bladder Neoplasms / genetics
Substances
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DNA, Mitochondrial
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DNA, Neoplasm