Barrett’s esophagus (BE) affects one in ten adults and occurs when stomach acid damages the esophageal lining. Of particular concern, BE can set the stage for a type of cancer called esophageal adenocarcinoma (EAC), one of the few cancers with rates on the rise.

But here’s the good news. Researchers have pinpointed genetic mutations in patients with BE, EAC, or both. Because the changes are unique—none were found in individuals without esophageal disease—the findings could someday improve detection and save lives.

”In the future, finding genetic mutations will allow doctors to determine who is at risk for BE and EAC,” said Charis Eng, M.D., Ph.D., Chair and Founding Director of the Genomic Medicine Institute of Lerner Research Institute at Cleveland Clinic. “These represent new tools to empower patients and their physicians to begin increased clinical screening and, thus, preempt esophageal cancer from developing.”

The study, published in the July 27, 2011 issue of The Journal of the American Medical Association and led by Dr. Eng, was conducted from 2005 to 2010 at 16 institutions across the United States and involved 298 participants with BE, EAC, or both.

Utilizing the latest in genomics approaches and state-of-the art technology along with functional genomic validation, the group identified mutations in three genes—MSR1, ASCC1, and CTHRC1—in 11 percent of the study participants, indicative of a significant genetic predisposition. Mutations in MSR1 were the most common, affecting seven percent of the patients studied.

Geneticists explain that identifying predisposition genes also gives valuable insight into how the disease occurs. Preliminary evidence from this study suggests a role for specific molecular pathways, including inflammation, in the development of BE/EAC as well as a potential link of the mutated genes to additional cancers.

“We are absolutely thrilled to now know three distinct genes that link to BE/EAC,” said Dr. Eng. “This is essential for improving risk assessment, disease management, and saving lives.”

BE is related to gastroesophageal reflux disease. At present, no one can predict which patients with BE will develop esophageal cancer. Although the risk is low in most cases, cancer experts recommend that all BE patients undergo periodic exams to find and remove precancerous cells in the esophagus.

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