High risk oesophageal cancer gene discovered

WASHINGTON - British researchers have uncovered a gene which plays a key role in the development of oesophageal cancer (cancer of the gullet), according to a study published online Thursday in American Journal of Human Genetics.

The research concentrated on three families with a hereditary condition called tylosis with oesophageal cancer. This condition affects the skin and mouth and sufferers have a 95 percent chance of developing oesophageal cancer by the age of 65.

The research revealed that all three families carried a faulty version of a gene called RHBDF2.

Experiments showed that this gene plays an important role in how cells that line the oesophagus, and cells in the skin, respond to injury. When the gene is functioning normally it ensures that cells grow and divide in a controlled fashion to help heal a wound. However, in tylosis patients' cells, and in cells from oesophageal cancers, the gene malfunctions. This allows cells to divide and grow uncontrollably, causing cancer.

The new study was led by Professor David Kelsell from Queen Mary, University of London with collaborators from the University of Dundee and the University of Liverpool.

"In studying this relatively rare condition, we have made an important discovery about a cancer that is all too common. Finding a genetic cause for this aggressive cancer, and understanding what that gene is doing, is an enormous step forward," Kelsell said in a statement.

Oesophageal cancer affects more than 8,000 people each year in the United Kingdom and the rates are rising. It is more common in the UK than anywhere else in Europe. Survival rates are poor compared to other types of cancer with only eight percent of people alive five years after diagnosis. Scientists know little about how oesophageal cancer develops and very few drugs for targeting the disease are currently available.