Researchers Find 3 Genes Linked to Esophagus Disorders

TUESDAY July 26, 2011 -- Mutations in three genes have been found to be more common among people with disorders of the esophagus, including esophageal cancer and Barrett esophagus (a complication of gastroesophageal reflux disease), a new study shows.

The findings could help identify those at greater risk for these conditions and lead to improved treatments, researchers from the Cleveland Clinic said in the report published in the July 27 issue of the Journal of the American Medical Association.

"Finding predisposition genes may improve premorbid risk assessment, genetic counseling and management," Dr. Charis Eng and colleagues wrote.

The developments are significant because in the United States and Europe, cases of esophageal cancer have surged 350 percent over the past 40 years and Barrett esophagus (which is believed to precede the cancer) affects 10 percent of the population, the authors explained in a journal news release.

In conducting the study, the investigators pinpointed three major genes -- known as MSR1, ASCC1 and CTHRC1 -- associated with both esophageal cancer and Barrett esophagus.

Out of 116 patients analyzed, mutations in these three genes were found in 13 people. "These three genes together accounted for 11 percent of our cases, reflecting what is normally considered a moderate- to high-penetrance genetic load for a disease," Eng's team wrote.

The study authors pointed out, however, that further research is needed to support the findings. They added that larger studies might also be needed to explore how these genes can be used to diagnose or assess patients' risk for disorders of the esophagus.

More information

The U.S. National Institutes of Health provides more information on esophagus disorders.

Posted: July 2011


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