Project 1

Genetic Predisposition to Barrett’s Esophagus and Esophageal Adenocarcinoma

Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC) are complex diseases with undiscovered genetic factors. We successfully discovered a deleterious variant in VSIG10L segregating in a large family. This is the first such reported gene for susceptibility to BE and EAC. VSIG10L appears to function in adhesion and differentiation/maturation of stratified squamous epithelium.

The BETRNet focus of Project 1 is thus to create a genetically engineered mouse model based on VSIG10L to understand the transformation from squamous epithelium to metaplastic Barrett’s epithelium. The significance of Project 1 is clearly in first building on our successful discovery of the first familial susceptibility genetic variant by understanding how this gene functions in metaplastic transformation of Barrett’s epithelium.

Project 1 Key Personnel

Project 1 PI: Amitabh Chak, M.D.
Project 1 Co-PI: Kishore Guda, D.V.M., Ph.D.
Project 1 Co-Investigator: Sanford Markowitz, M.D., Ph.D.
Project 1 Co-Investigator: Nathan Berger, M.D.
Project 1 Co-Investigator: Joseph Willis, M.D.
Project 1 Co-Investigator: Vinay Varadan, Ph.D.