Germline Mutation in VSIG10L and Familial Barrett Neoplasia Interview with:

Amitabh Chak, MD University Hospitals Case Medical Ctr Cleveland, OH, 44106


Amitabh Chak, MD
University Hospitals Case Medical Ctr
Cleveland, OH, 44106 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. What should readers take away from your report?

Response: Genetic studies of rare families can provide insights into the pathogenesis of complex diseases such as cancer. What recommendations do you have for future research as a result of this study?

Response: We will now focus on studying the function of VSIG10L
and identifying the maturation pathways it affects. Is there anything else you would like to add?

Response: It takes a whole team of investigators to make progress. Thank you for your contribution to the community.


Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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Last Updated on July 29, 2016 by Marie Benz MD FAAD