Gene offers clue to cause of oesophageal cancer

In collaboration with the Press Association

Scientists have discovered the gene behind a rare skin condition that predisposes to oesophageal cancer, according to a study part-funded by Cancer Research UK.

The finding could be a major step towards new ways to treat and diagnose this type of cancer.

The research, published in the American Journal of Human Genetics, was led by Professor David Kelsell from Queen Mary, University of London, with collaborators from the University of Dundee and the University of Liverpool.

The researchers used the 'next generation' DNA decoding machines to study the genetic make-up of people with an inherited skin condition called tylosis.

This condition affects the skin and mouth, and greatly increases a person's chances of developing oesophageal cancer - more than nine in every 10 people with the condition develop oesophageal cancer by the age of 65.

The team found that a fault in a single gene - RHBDF2, involved in wound healing - caused the condition.

Crucially, initial findings also suggest that this gene could have a role in the more common, non-inherited form of oesophageal cancer - and could reveal a new target for treating this often hard-to-treat disease.

Oesophageal cancer, which is more common in the UK than the European average, affects more than 8,000 people each year in the UK and the number is rising.

Scientists know little about how it develops and very few drugs for targeting the disease are currently available. Survival rates are poor compared with other types of cancer and only eight per cent of patients are alive five years after diagnosis.

"In studying this relatively rare condition, we have made an important discovery about a cancer that is all too common," said Prof Kelsell.

"Finding a genetic cause for this aggressive cancer, and understanding what that gene is doing, is an enormous step forward.

"By analysing 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."

Dr Rebecca Fitzgerald, a Cambridge-based oesophageal cancer expert said: "“This study is an excellent example of how careful genetic analysis of families with rare conditions linked to cancer can lead to broader insights into a disease - in this case squamous cell cancer of the oesophagus. We’ve known generally what part of the chromosome is involved in tylosis for some time, but it’s taken a until now to pin down the exact gene.

“This work has for the first time uncovered the crucial role of the RHBDF2 gene in this disease. It paves the way for further research to better understand the role of this gene, which will hopefully reveal new ways to diagnose and treat oesophageal cancer.”

Dr Laura Bell, senior science information officer at Cancer Research UK, said: "This work shows how next-generation DNA sequencing technologies are revolutionising our understanding of the genetic causes of cancer and gives scientists a promising lead into avenues of research for people with both inherited and non-inherited forms of oesophageal cancer.

"Finding genes like this can help scientists develop new ways to treat and diagnose oesophageal cancer, which are urgently needed for people with this type of the disease."

Copyright Press Association 2012


  • Blaydon, D. C. et al. RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome. Am J Hum Genet doi:10.1016/j.ajhg.2011.12.008