After studying a rare condition in families, researchers have discovered a gene that plays a pivotal role in esophageal cancer. The discovery provides a new target for treating this aggressive disease.
"Quit smoking and limit your drinking."
Researchers at Queen Mary, University of London collaborated with scientists from the University of Dundee and the University of Liverpool. Queen Mary Professor David Kelsell led the research.
"Finding a genetic cause for this aggressive cancer, and understanding what that gene is doing, is an enormous step forward," Professor Kelsell said in a news release announcing the study findings.
The team focused on three families with esophageal cancer who also had an inherited condition known as tylosis, which affects the mouth and skin. People with tylosis have excessively high risks - 95 percent - of developing cancer of the esophagus before age 65.
All three of these families, researchers learned, carried a corrupted version of the RHBDF2 gene.
Studies showed this gene plays a key role in how cells in the esophagus and skin react to injury. A normally functioning RHBDF2 helps in the healing process.
But in patients with tylosis and in esophageal cancer cells, this gene misfires, allowing cells to grow out of control, which in turn causes cancer.
Studies suggest that this gene could become a target for treating cancer of the esophagus, which the American Cancer Society estimates will be diagnosed in 17,460 Americans in 2012 and cause 15,070 deaths.
"In studying this relatively rare condition, we have made an important discovery about a cancer that is all too common," Professor Kelsell said.
"By analyzing the complex biology which causes a particular type of cancer we begin to understand which treatments might be effective and also which treatments are unlikely to help," he concluded.
This research was funded by Queen Mary Innovations and Cancer Research UK. Professor Kelsell also received support from Barts and The London Charity.