Queen Mary scientists find faulty gene causing rare oesophageal cancer

Mike Brooke Thursday, January 19, 2012
7:00 AM

New medical research in London’s East End has uncovered a gene which plays a key role in developing cancer of the gullet.

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Researchers from Queen Mary, University of London, found that a fault in the gene known as RHBDF2 was responsible for oesophageal cancer in anyone carrying a rare, inherited condition called Tylosis—the faulty gene made them highly susceptible to the disease.

“Finding a genetic cause for this aggressive cancer and understanding what that gene is doing is an enormous step forward,” said Prof David Kelsell who led the study at Queen Mary’s.

“Analysing the complex biology which causes a particular cancer means we begin to understand which treatments might be effective and which are unlikely to help.”

Oesophageal cancer affects 8,000 people a year in Britain and is more common than anywhere else in Europe. Survival rates are poor, with only eight per cent living five years after diagnosis.

Scientists have known little about how it develops or what drugs currently available could target the disease, until now.