Breakthrough for families at risk of genetic bowel cancer

March 8

Cancer Council Western Australia has welcomed new WA research that will mean fewer individuals can expect to be diagnosed with or die from bowel cancer.

In a world-first, researchers have developed a unique testing regime which identifies those bowel cancers which are the result of a hereditary form of the disease, known as Lynch syndrome.

The study has already found 13 families in WA who were previously unaware that they carried the gene for this potentially deadly condition.

The results have been published in the International Journal of Cancer this week.

While only a small proportion of all bowel cancer cases can be linked to Lynch syndrome (less than two per cent), this research offers a potential lifesaver for these families, as once they are aware of their risk, they can be closely monitored.

Cancer Council’s Director of Education and Research, Terry Slevin, said the work was an important strategy in systematically finding WA families at higher risk of bowel cancer.

“It is the kind of vital local research work the Cancer Council is proud to support because of the many lives that can be saved," said Mr Slevin.

Lead researcher, Associate Professor Barry Iacopetta from the UWA School of Surgery, said as a result of the research WA was the only State in Australia where this test was being done routinely.

“By doing a relatively simple test at the time of tumour diagnosis it means there is an almost 100 per cent chance that if the patient has Lynch syndrome, they will be identified,” he said.

During the study, over 1,200 tumours from bowel cancer patients aged under 60 were tested for indications of Lynch syndrome. This research would not have been possible anywhere else in Australia as researchers in WA have access to a unique data collection system.

Professor Jack Goldblatt, Director Familial Cancer Program at Genetic Services WA said the research project had already changed clinical practice in WA.

“Previously the first we’d see of these patients was when they presented with bowel cancer, which was often at a late stage and difficult to treat,” said Professor Goldblatt.

“Now we have the capacity to identify virtually all of the bowel cancer patients who have inherited forms of bowel cancer before it becomes a problem.”

Professor Goldblatt said these individuals then have the opportunity to refer their family members for genetic testing.

“If a family member tests positive for the gene, which gives them about a 40-80 per cent chance of developing bowel cancer, then they can join a screening program to greatly boost their prospects of preventing or identifying a cancer at an early stage where it is curable,” said Professor Goldblatt. 

Bowel cancer is the second most common cancer in women in WA and the third most common cancer in men. In 2006, 1,080 Western Australians were diagnosed with bowel cancer and 400 died from the disease.

The work, funded by the National Health and Medical Research Council, has been a Statewide collaborative project between the pathology laboratories in WA (both public and private), Genetic Services WA, the School of Surgery at the University of WA, and supported over the long term by Cancer Council WA.

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For further information and interviews contact:
Erin Broderick - Cancer Council WA  - 043 999 0359