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Genetic test results for Lynch syndrome improved with new computer program
Date:11/1/2012

SALT LAKE CITYMany patients who have genetic testing for Lynch syndrome, a hereditary predisposition to colon cancer, receive the inconclusive result "variants of uncertain clinical significance." This can be a problem, as people with Lynch syndrome have a much higher probability to develop colon cancer, and often develop colon cancer at an earlier age than is common among the general population; consequently, they need to begin screening at a much younger age.

Now, between two-thirds and three-fourths of these genetic variants can be classified into categories that indicate the most appropriate screening and treatment guidelines, according to two complementary papers published in this month's Human Mutation Early View e-publication. The two papers, both co-authored by Sean Tavtigian, Ph.D., a Huntsman Cancer Institute (HCI) investigator and associate professor in the Department of Oncological Sciences at the University of Utah, provide a model that could help physicians as they assess their patient's risk to develop cancer.

According to the American Cancer Society, about 143,460 new cases of colon cancer will be diagnosed in the United States this year. The National Cancer Institute estimates that two to four percent of all colon cancer is attributable to Lynch syndrome.

Mutations in mismatch repair genes, which proofread DNA to correct genetic typos that occur during the replication process, are known to be the cause of the syndrome. "Some people in families with Lynch syndrome have already known mutations, and a small number of missense substitutions have also been classified as pathogenic," said Tavtigian. "But a fair number have other missense substitutions for which the clinical significance could not be determined, creating uncertainty concerning proper screening and treatment for patients and physicians alike."

The first of the two studies reported on standardizing several already available computer programs t
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Contact: Linda Aagard
801-587-7639
University of Utah Health Sciences
Source:Eurekalert

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