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 18 November 2017

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News

APC mutations can be detected in fecal DNA from patients with early colorectal tumors

Early detection of colorectal neoplasms may be possible by identifying APC mutations in fecal DNA, according to a research paper published in the latest issue of the New England Journal of Medicine.

News image

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Researchers from the USA and Sweden determined the feasibility of detecting adenomatous polyposis coli (APC) gene mutations in fecal DNA with the use of newly developed methods.

Non-invasive methods for detecting colorectal tumors have the potential to reduce morbidity and mortality from this disease.

The mutations in the APC gene that initiate colorectal tumors theoretically provide an optimal marker for detecting colorectal tumors.

The investigators 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.

APC mutations identified:
Colorectal neoplasia: 57%
Controls: 0%
New England Journal of Medicine

Stool samples from 28 patients with non-metastatic 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%) and in none of the 28 control patients (0%).

In the patients with positive tests, mutant APC genes made up 0.4% to 14.1% of all APC genes in the stool.

Giovanni Traverso, of the Johns Hopkins School of Medicine, Baltimore, Maryland, USA, concluded on behalf of the group, "APC mutations can be detected in fecal DNA from patients with relatively early colorectal tumors.

"This feasibility study suggests a new approach for the early detection of colorectal neoplasms."

N Engl J Med 2002; 346(5): 311-20
01 February 2002

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