Detection and Quantification of Mutations in the Plasma of Patients with Colorectal Tumors

The early detection of cancers through analysis of circulating DNA could have a substantial impact on morbidity and mortality. To achieve this goal, it is essential to determine the number of mutant molecules present in the circulation of cancer patients and to develop methods that are sufficiently...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 2005-11, Vol.102 (45), p.16368-16373
Main Authors: Frank Diehl, Li, Meng, Dressman, Devin, He, Yiping, Shen, Dong, Szabo, Steve, Luis A. Diaz, Jr, Goodman, Steven N., Kerstin A. David, Juhl, Hartmut, Kinzler, Kenneth W., Vogelstein, Bert
Format: Article
Language:English
Subjects:
Adenoma
Adult
Aged
Aged, 80 and over
Biological Sciences
Blood plasma
Cancer
Circulatory system
Colorectal cancer
Colorectal neoplasms
Colorectal Neoplasms - blood
Colorectal Neoplasms - genetics
Deoxyribonucleic acid
Diagnostic tests
DNA
DNA, Neoplasm - blood
DNA, Neoplasm - metabolism
Emulsions
Female
Genes, APC
Genetic mutation
Humans
Male
Medical research
Middle Aged
Molecules
Mutation
Polymerase chain reaction
Sensitivity and Specificity
Tumors
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Summary:The early detection of cancers through analysis of circulating DNA could have a substantial impact on morbidity and mortality. To achieve this goal, it is essential to determine the number of mutant molecules present in the circulation of cancer patients and to develop methods that are sufficiently sensitive to detect these mutations. Using a modified version of a recently developed assay for this purpose, we found that patients with advanced colorectal cancers consistently contained mutant adenomatous polyposis coli (APC) DNA molecules in their plasma. The median number of APC DNA fragments in such patients was 47,800 per ml of plasma, of which 8% were mutant. Mutant APC molecules were also detected in >60% of patients with early, presumably curable colorectal cancers, at levels ranging from 0.01% to 1.7% of the total APC molecules. These results have implications for the mechanisms through which tumor DNA is released into the circulation and for diagnostic tests based on this phenomenon.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.0507904102