Esophagus Problems Are in the Genes

Barrett's esophagus and esophageal adenocarcinoma patients impacted by MSR1 gene

(RxWiki News) Barrett's esophagus happens when stomach acids damage the lining of the esophagus. Now, it seems that genes may also play a role in causing the disorder.

Researchers found certain genetic differences in patients with Barrett's esophagus and esophageal adenocarcinoma - a cancer that commonly develops through Barrett's esophagus. These genetic differences were not found in patients who did not have Barrett's esophagus or esophageal adenocarcinoma.

"Certain genes are only found in patients with Barrett's esophagus."

It is exciting to know that three specific genes are linked to Barrett's esophagus and esophageal adenocarcinoma, says Charis Eng, M.D., Ph.D., Chair and Founding Director of the Genomic Medicine Institute of Lerner Research Institute at Cleveland Clinic and leader of this study. Knowing these genes, she says, is necessary for making better judgements of people's risk, for better disease management, and for saving lives.

Because none of these genetic differences were found in people without Barrett's esophagus or esophageal adenocarcinoma, it is likely that there is a previously unknown cause of these diseases that can be inherited.

For their study, Dr. Eng and colleagues looked at the genes of 298 patients with Barrett's esophagus, esophageal adenocarcinoma, or both. Using the latest methods and technologies, they spotted three genes (MSR1, ASCC1, and CTHRC1) that were mutated in 11 percent of the study's participants.

The most common mutation - which affected 7 percent of the participants - was in the MSR1 gene.

These findings suggest that people with Barrett's esophagus and/or esophageal adenocarcinoma have a genetic makeup that may have put them at a higher risk for the diseases.

Barrett's esophagus affects as much as 10 percent of the population, and it has become increasingly common since 1970. It is thought that Barrett's esophagus increases the risk for esophageal adenocarcinoma, a cancer that is usually not diagnosed until it has developed so much that saving a patient seems unlikely.

If these genetic mutations are a clear sign of risk for Barrett's esophagus and esophageal adenocarcinoma, then doctors may be able to spot patients at high risk and treat their cancer earlier.

The results of the study by Dr. Eng and colleagues are published in the Journal of the American Medical Association.

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Review Date: 
July 27, 2011