According to a new study published in the Journal of the American Medical Association, researchers have identified genetic mutations in patients with Barrett's esophagus and/or esophageal adenocarcinoma. These mutations were not found in patients who didn't have Barrett's esophagus or esophageal adenocarcinoma, suggesting possible heritable causes for these conditions. Identifying genetic markers will allow risk assessment, early detection, improved disease management, and ultimately increased survival.
This study was led by Charis Eng, M.D., Ph.D., Chair and Founding Director of the Genomic Medicine Institute of Lerner Research Institute at Cleveland Clinic, and was conducted from 2005 to 2010 at 16 different institutions across the United States and involved 298 participants with Barrett's esophagus, esophageal adenocarcinoma, or both.
Identifying Barrett's esophagus / esophageal adenocarcinoma predisposition genes may also give insight to how the disease occurs. Preliminary evidence from this study suggests a role for specific molecular pathways, including inflammation, in the development of Barrett's esophagus / esophageal adenocarcinoma, as well as a potential link of the mutated genes to additional cancers as well.
More information about this study can be found on the JAMA website.