Author Interviews, Gastrointestinal Disease, Genetic Research, JAMA / 29.07.2016
Germline Mutation in VSIG10L and Familial Barrett Neoplasia
MedicalResearch.com Interview with:
[caption id="attachment_26492" align="alignleft" width="133"]
Dr-Amitabh-Chak[/caption]
Amitabh Chak, MD
University Hospitals Case Medical Ctr
Cleveland, OH, 44106
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: About 20 years ago we discovered that Barrett's esophagus and esophageal cancer aggregate in a small proportion of families suggesting there might be a genetic basis to these complex diseases. As we started looking at these families, we identified a rare family with multiple members who had Barrett's esophagus and multiple members who had passed away from esophageal cancer at a young age. Advances in exome sequencing have now allowed us to identify a mutation in a gene whose function is not known that predisposes this family to develop Barrett's esophagus. Functional studies suggest that this gene, VSIG10L, is involved in maturation of normal squamous esophagus.
Dr-Amitabh-Chak[/caption]
Amitabh Chak, MD
University Hospitals Case Medical Ctr
Cleveland, OH, 44106
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: About 20 years ago we discovered that Barrett's esophagus and esophageal cancer aggregate in a small proportion of families suggesting there might be a genetic basis to these complex diseases. As we started looking at these families, we identified a rare family with multiple members who had Barrett's esophagus and multiple members who had passed away from esophageal cancer at a young age. Advances in exome sequencing have now allowed us to identify a mutation in a gene whose function is not known that predisposes this family to develop Barrett's esophagus. Functional studies suggest that this gene, VSIG10L, is involved in maturation of normal squamous esophagus.


























