Facile detection of mitochondrial DNA mutations in tumors and bodily fluids.
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.
Fliss
M S
MS
Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Usadel
H
H
Caballero
O L
OL
Wu
L
L
Buta
M R
MR
Eleff
S M
SM
Jen
J
J
Sidransky
D
D
D019943:Amino Acid Substitution; D001826:Body Fluids / Q000737:chemistry*; D001992:Bronchoalveolar Lavage Fluid / Q000737:chemistry; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics* / Q000652:urine; D004273:DNA, Neoplasm / Q000032:analysis / Q000235:genetics* / Q000652:urine; D016158:Genes, p53; D006258:Head and Neck Neoplasms / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008175:Lung Neoplasms / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012463:Saliva / Q000737:chemistry; D017384:Sequence Deletion; D001749:Urinary Bladder Neoplasms / Q000175:diagnosis / Q000235:genetics
D004272:DNA, Mitochondrial; D004273:DNA, Neoplasm