Journal
SCIENCE
Volume 287, Issue 5460, Pages 2017-2019Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.287.5460.2017
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Funding
- NCI NIH HHS [P01 CA 58184, R01 CA77664] Funding Source: Medline
- NIDCR NIH HHS [R01 DE 012488] Funding Source: Medline
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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.
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