Detection of APC mutations in fecal DNA from patients with colorectal tumors

Giovanni Traverso, Anthony Shuber, Bernard Levin, Constance Johnson, Louise Olsson, David J. Schoetz, Stanley R. Hamilton, Kevin Boynton, Kenneth W Kinzler, Bert Vogelstein

Research output: Contribution to journalArticle

Abstract

Background: Noninvasive methods for detecting colorectal tumors have the potential to reduce morbidity and mortality from this disease. The mutations in the adenomatous polyposis coli (APC) gene that initiate colorectal tumors theoretically provide an optimal marker for detecting colorectal tumors. The purpose of our study was to determine the feasibility of detecting APC mutations in fecal DNA with the use of newly developed methods. Methods: We purified DNA from routinely collected stool samples and screened for APC mutations with the use of a novel approach called digital protein truncation. Many different mutations could potentially be identified in a sensitive and specific manner with this technique. Results: Stool samples from 28 patients with nonmetastatic colorectal cancers, 18 patients with adenomas that were at least 1 cm in diameter, and 28 control patients without neoplastic disease were studied. APC mutations were identified in 26 of the 46 patients with neoplasia (57 percent; 95 percent confidence interval, 41 to 71 percent) and in none of the 28 control patients (0 percent; 95 percent confidence interval, 0 to 12 percent; P

Original languageEnglish (US)
Pages (from-to)311-320
Number of pages10
JournalNew England Journal of Medicine
Volume346
Issue number5
DOIs
StatePublished - Jan 31 2002

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Adenomatous Polyposis Coli
Colorectal Neoplasms
Mutation
DNA
Confidence Intervals
APC Genes
Adenoma
Morbidity
Mortality
Neoplasms
Proteins

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Detection of APC mutations in fecal DNA from patients with colorectal tumors. / Traverso, Giovanni; Shuber, Anthony; Levin, Bernard; Johnson, Constance; Olsson, Louise; Schoetz, David J.; Hamilton, Stanley R.; Boynton, Kevin; Kinzler, Kenneth W; Vogelstein, Bert.

In: New England Journal of Medicine, Vol. 346, No. 5, 31.01.2002, p. 311-320.

Research output: Contribution to journalArticle

Traverso, G, Shuber, A, Levin, B, Johnson, C, Olsson, L, Schoetz, DJ, Hamilton, SR, Boynton, K, Kinzler, KW & Vogelstein, B 2002, 'Detection of APC mutations in fecal DNA from patients with colorectal tumors', New England Journal of Medicine, vol. 346, no. 5, pp. 311-320. https://doi.org/10.1056/NEJMoa012294
Traverso G, Shuber A, Levin B, Johnson C, Olsson L, Schoetz DJ et al. Detection of APC mutations in fecal DNA from patients with colorectal tumors. New England Journal of Medicine. 2002 Jan 31;346(5):311-320. https://doi.org/10.1056/NEJMoa012294
Traverso, Giovanni ; Shuber, Anthony ; Levin, Bernard ; Johnson, Constance ; Olsson, Louise ; Schoetz, David J. ; Hamilton, Stanley R. ; Boynton, Kevin ; Kinzler, Kenneth W ; Vogelstein, Bert. / Detection of APC mutations in fecal DNA from patients with colorectal tumors. In: New England Journal of Medicine. 2002 ; Vol. 346, No. 5. pp. 311-320.
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