29 Jul Germline Mutation in VSIG10L and Familial Barrett Neoplasia
MedicalResearch.com Interview with:
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.
MedicalResearch.com: 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.
MedicalResearch.com: 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.
MedicalResearch.com: Is there anything else you would like to add?
Response: It takes a whole team of investigators to make progress.
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