Mutations in three genes have been found to be more common among people with disorders of the oesophagus, including oesophageal cancer and Barrett oesophagus (a complication of gastroesophageal reflux disease), a new study shows.
The findings could help identify those at greater risk for these digestive conditions and lead to improved treatments, researchers from the Cleveland Clinic said in the report published in the Journal of the American Medical Association.
"Finding predisposition genes may improve pre-morbid risk assessment, genetic counselling and management," Dr Charis Eng and colleagues wrote.
The developments are significant because in the United States and Europe, cases of oesophageal cancer have surged 350% over the past 40 years and Barrett oesophagus (which is believed to precede the cancer) affects 10% of the population, the authors explained.
Three genes linked to Barrett oesophagus
In conducting the study, the investigators pinpointed three major genes - known as MSR1, ASCC1 and CTHRC1 - associated with both oesophageal cancer and Barrett oesophagus.
Out of 116 patients analysed, mutations in these three genes were found in 13 people. "These three genes together accounted for 11% 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 oesophagus.
The U.S. National Institutes of Health provides more information on esophagus disorders.
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