Research Reveals Link Between Common Genetic Abnormality and Bowel Cancer

May 28th, 2009 - Media Statement

A recent Australian study has revealed carriers of a widespread gene mutation once thought to be a trivial abnormality, have a significantly higher risk of developing bowel cancer - the second most common form of cancer nationally.

Report co-author and Western Australian Institute for Medical Research (WAIMR) deputy director Professor John Olynyk said the research, recently published in the prestigious International Journal of Cancer, found people with the defect - present in one in every 36 Caucasians - and who had a cancer predisposing abnormality - were three times more likely to develop bowel cancer.

"What we discovered is that people who carry two copies of the gene mutation known as H63D, and who also have the gene mutations linked to bowel cancer, are three times more likely to develop bowel cancer but fortunately, this particular gene mutation is able to be readily detected in Australia," Professor Olynyk said.

"As well, in those people, the cancer develops on average six years earlier."

Professor Olynyk said the study looked at more than 350 people from Australia and Poland who carried a specific gene mutation associated with a type of bowel cancer known as hereditary nonpolyposis colorectal cancer - a disorder which accounts for 5 per cent of bowel cancer cases in Australia and often causes cancer in young adults.

"What this research highlights is that people with a family history of bowel cancer would do well to have regular colonoscopies in the hope of picking up the early warning signs and help prevent the cancer developing," he said.

"Being vigilant is critical, especially given that hereditary nonpolyposis colorectal cancer often strikes younger people who are less likely to get regular checks for bowel cancer."

Professor Olynyk said the findings highlighted how critical it was that further research be conducted to determine how these genetic abnormalities worked together to increase cancer risk.

Professor Olynyk has been invited to address the Centers for Disease Control and Prevention's Division of Blood Disorders in the United States of America in September as part of a strategy to develop a public health policy framework within the United States of America for iron overload diseases.

For more information please contact:
Sarah Hayward
Media Consultant for the WA Institute for Medical Research
Mobile: 0411 404 415
Office: (08) 9388 9280