Gene mutations linked to diseases of the oesophagus

In collaboration with the Press Association

US scientists have linked mutations in three genes with an increased risk of Barrett's oesophagus and oesophageal cancer, according to preliminary research published in the Journal of the American Medical Association (JAMA).

Barrett's oesophagus happens when abnormal cells start to develop on the inner lining of the foodpipe. It is usually diagnosed in people who have a long history of burning indigestion - a sign of acid reflux. Around 1 to 2 in every 100 people with Barrett's oesophagus will go on to develop oesophageal cancer.

Experts at the Cleveland Clinic used genome-scanning technologies to look for common genetic markers associated with cancer. They found that 13 of 116 people (11 per cent) with a type of oesophageal cancer called an adenocarcinoma or with Barrett's oesophagus had mutations in the genes MSR1, ASCC1 or CTHRC1.

The most frequently mutated gene was MSR1 (in approximately 7 per cent of cases), followed by ASCCl and CTHRC1.

The researchers, lead by Dr Charis Eng, wrote: "Finding predisposition genes may improve premorbid risk assessment, genetic counselling, and management."

They also stated that a larger study will be needed before the genes can be used in risk assessment or diagnosis.

Dr Rebecca Fitzgerald, a Cancer Research UK oesophageal cancer expert, welcomed the new insights into what is the first genome-wide study in oesophageal adenocarcinomas. But she said work is needed to confirm the findings.

"By analysing cases of Barrett's oesophagus and oesophageal cancer together, rather than separately, the researchers have effectively treated them as the same disease. However, this assumes that the same genetic faults drive both diseases and we don't know if this is true. Also, the scientists used an unorthodox study design to make up for the fact that this is a relatively small study which means it is less powerful than larger studies.

"Despite these limitations, the three genes they've pinpointed warrant some serious further investigation. It will be very interesting to see if ongoing larger genome-wide association studies in Europe and the US confirm this early work," she said.

Copyright Press Association 2011