TUESDAY, July 26 (HealthDay News) -- 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
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
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
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
The U.S. National Institutes of Health provides more information