Unlocking clues to oesophageal cancer

The first genome-wide association study of oesophageal cancer has identified three new genes linking the reflux condition Barrett’s oesophagus and oesophageal adenocarcinoma (OAC).

The international research collaboration involved scientists at QIMR Berghofer Medical Research Institute, Professor David Whiteman and Associate Professor Stuart MacGregor, with researchers from the Fred Hutchinson Cancer Research Center in the US.

“This tells us that Barrett’s and OAC are even more closely linked than we previously thought,” Professor Whiteman said, adding that the finding provided the opportunity to look for new drug targets for preventing or treating cancers of the oesophagus.

OAC is the fastest rising cancer in Australia - about 700 Australians are diagnosed each year. The prognosis is grim, with seven in 10 patients dying within five years of diagnosis. The disease occurs predominantly in men and known risk factors include acid reflux, obesity and smoking.

Barrett’s oesophagus is a condition in which some of the lining of the oesophagus is replaced by a tissue similar to that normally found in the intestine. Some people who suffer from reflux or heartburn develop the gastro-oesophageal condition Barrett’s oesophagus.

Estimates vary, but up to about 5% of people with Barrett’s will eventually develop OAC, compared with less than 1% of the general population.

“We already knew that Barrett’s is a precursor to this type of cancer, and had strongly suspected a genetic component to the conditions. But these findings suggest that the key genes influencing a person’s risk of Barrett’s and OAC are the same,” Professor Whiteman said.

“Ultimately this research could lead to a way to screen people for the high-risk genes and perhaps modify their risk of developing both Barrett’s and OAC.”

This study used samples provided by the international collaborative group BEACON - The Barrett’s Oesophagus and Adenocarcinoma Consortium.

QIMR Berghofer was recently given $2.4 million in federal funding from the NHMRC to bring together Australia’s major oesophageal cancer research teams in a Centre of Research Excellence.

The research was published in Nature Genetics.