A breakthrough by researchers at Case Western Reserve has led to the discovery of an Inherited Gene Mutation linked to Esophageal Adenocarcinoma. This paves the way for preventative testing to discover patients most likely to inherit a higher risk of developing this deadly disease. The gene in question is Caveolin-3 (CAV3) which is normally found in mucosal glands that lie under the lining of the esophagus.
Healthy Caveolin-3 (CAV3) cells move up to heal any injury to the esophagus. However, the cells with the mutation discovered by researchers at Case Western are unable to perform that healing function. In patients with GERD who suffer injury to their esophagus, the mutation means the healing expected in normal cells is absent, and the risk for Esophageal Adenocarcinoma is increased.
The study, published in Gastroenterology, was led by  Kishore Guda, an associate professor at the Case Western Reserve School of Medicine and the Case Comprehensive Cancer Center, and  Amitabh Chak, a professor at the School of Medicine and physician at University Hospitals Cleveland Medical Center.
In the past, studies from this lab have found a familial link in as many as 10% of patients with Esophageal Adenocarcinoma or its precursor, Barrett’s Esophagus. This new breakthrough helps to explain how and why a genetic link may be present in specific cases.
Dr. Chak is the winner of ECAN’s Bogart Award for extraordinary contributions to the wellbeing of those at risk for Esophageal Cancer. You can watch ECAN webinars with Dr. Chak to learn more about familial links in Esophageal Cancer and Barrett’s Esophagus.