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News » Filed under: Esophagus Cancer

Researchers Find Genetic Link to Esophageal Cancer

Article date: August 17, 2011

By Stacy Simon

Researchers have found evidence that genetics may be a risk factor in some cases of esophageal cancer and Barrett’s esophagus, a condition linked to esophageal cancer.

Since 1970, cases of a specific type of esophageal cancer have increased 350%, though doctors don't know why. In addition to having Barrett’s esophagus, risk factors for developing esophageal cancer include smoking, drinking, acid reflux, obesity, being male, being age 65 or older, and a diet that's low in fruits and vegetables.

Details of the Study

In a study funded by the American Cancer Society and published in the Journal of the American Medical Association, researchers at the Cleveland Clinic discovered mutations in 3 genes that are more common in people with esophageal adenocarcinoma (EAC), a kind of esophagus cancer, and Barrett’s esophagus. None of the mutations were found in patients without EAC or Barrett’s esophagus.

The study was conducted at 16 centers around the U.S. between 2005 and 2010 and involved 298 participants, each of whom had Barrett's esophagus, EAC, or both. Comparing that group to a group that did not have either disease, the researchers identified 3 genes that were altered in patients with Barrett's esophagus and EAC but not in those without those conditions. Mutations of those genes were found in 11% of the participants.

What the Future Holds

The findings could eventually help identify people at greater risk of developing these diseases, so they could be screened to catch any cancer at an earlier stage when it’s more easily treated.

Currently, people with Barrett’s esophagus are often advised to get regular endoscopy to look for any signs of cancer. In this procedure, a doctor views the esophagus through a camera placed on a scope. As much as 10% of the population has Barrett’s esophagus. Even so, most people with Barrett’s esophagus do not develop esophageal cancer.

Lead researcher Charis Eng MD, PhD, says the 3 gene mutations found are just the beginning, and there will be more. Dr. Eng and her team are in the process of accepting participants for trials that will examine family members of patients with Barrett’s esophagus and esophageal cancer. She says people will eventually be able to consult a geneticist to determine their level of risk, so they can decide whether to be screened.

Esophageal cancer affects nearly 17,000 people per year in the United States. Symptoms include difficulty swallowing, pain upon swallowing, pain in the chest or back, weight loss, heartburn and hoarseness. These symptoms can also be caused by other conditions, but if you have any of them, see your doctor.

For more information about Barrett’s esophagus and esophageal cancer, see our detailed guide.

Reviewed by: Members of the ACS Medical Content Staff


ACS News Center stories are provided as a source of cancer-related news and are not intended to be used as press releases.

Citation: Germline Mutations in MSR1, ASCC1, and CTHRC1 in Patients With Barrett Esophagus and Esophageal Adenocarcinoma. Published in the July 27, 2011 issue of the Journal of the American Medical Association (Vol. 306, No. 4). First author: Mohammed Orloff, PhD, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio.

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