Rare Genetic Mutation Discovered in Association with Familial Barrett’s Esophagus and Esophageal Cancer
Researchers at University Hospitals Cleveland Medical Center have discovered that a rare genetic mutation is associated with susceptibility to familial Barrett’s esophagus (FBE) and esophageal cancer. Amitabh Chak, MD, of UH Cleveland Medical Center, University Hospitals Seidman Cancer Center and Case Western Reserve University School of Medicine, and colleagues set out to identify novel disease susceptibility variants in FBE in affected individuals from a large multigenerational family.
Dr. Chak and his team, and collaborating senior author Kishore Guda, DVM, PhD, of Case Comprehensive Cancer Center, used targeted next-generation gene sequencing to find a rare mutation (S631G) in FBE in the uncharacterized gene VSIG10L that segregated with disease in affected family members. Functional studies revealed that this mutation disrupts the maturation of the normal esophageal lining.
Early detection through screening can prevent the development of esophageal cancer. Further research on accessing this gene variant may reveal pathways necessary for the pathogenesis of Barrett’s esophagus and esophageal adenocarcinoma, leading to earlier detection and better treatment options.
$6M, 5-year NIH grant extends funding for collaborative Cleveland Digestive Diseases Research Core Center
A new $6 million, 5-year grant from the National Institutes of Health extends funding for the Silvio O. Conte Cleveland Digestive Diseases Research Core Center (DDRCC), a cross-institutional collaboration of digestive disease investigators.