Detection and quantification of mutations in the plasma of patients with colorectal tumors.


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Diehl, F; Li, M; Dressman, D; He, Y; Shen, D; Szabo, S; Diaz, LA; Goodman, SN; David, KA; Juhl, H; Kinzler, KW; Vogelstein, B

Published Date

  • November 8, 2005

Published In

Volume / Issue

  • 102 / 45

Start / End Page

  • 16368 - 16373

PubMed ID

  • 16258065

Pubmed Central ID

  • 16258065

International Standard Serial Number (ISSN)

  • 0027-8424

Digital Object Identifier (DOI)

  • 10.1073/pnas.0507904102


  • eng

Conference Location

  • United States