London researchers discover esophageal cancer gene

Queen Mary, University of London researchers worked with scientists from the University of Dundee and the University of Liverpool to research the possibility of finding a genetic cause for esophageal cancer.

Queen Mary Professor David Kelsell who led the research stated in a news release, “Finding a genetic cause for this aggressive cancer, and understanding what that gene is doing, is an enormous step forward.” The discovery provides a new target for treating this aggressive disease.

Three families with esophageal cancer were studied.  These three families also had an inherited mouth and skin condition called “tylosis.”  Those with tylosis have up to a 95% risk of developing esophageal cancer before age 65.

All three families also carried a corrupted version of a gene called “RHBDF2” which plays a key role in the healing process when the skin cells or esophageal cells are injured.

But in patients with tylosis and in esophageal cancer cells, this gene misfires, allowing cells to grow uncontrollably, causing cancer.

“In studying this relatively rare condition, we have made an important discovery about a cancer that is all too common. We begin to understand which treatments might be effective and also which treatments are unlikely to help” Professor Kelsell said.

This research was funded by Queen Mary Innovations and Cancer Research UK. Professor Kelsell also received support from Barts and The London Charity.

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