Genetic cause of cancer identified as a defect in the function of otherwise normal genes

In a landmark study published today in Nature Genetics, researchers from St Vincent's Hospital, The Victor Chang Cardiac Research Institute and the University of New South Wales have shown that a possible cause of cancer is a defect in the function of otherwise normal genes.

The team of researchers, located at the St Vincent's Research Campus in Darlinghurst, has demonstrated that an individual's life-time risk of developing cancer may be increased if they have a particular gene which, although normal, has been shut down or silenced. This functional change in the gene appears to cause the development of multiple cancers.

The focus of this work on the way a gene functions, rather than on the genetic structure, is both a breakthrough in cancer research and also a new approach to thinking about genes, according to the executive director of The Victor Chang Cardiac Research Institute, Professor Robert Graham. The conclusions are based on a study of 94 people with either multiple cancers or with a strong family history of colorectal cancer.

Team member Robyn Ward, senior specialist in medical oncology at St Vincent's Hospital and Associate Professor of medicine at UNSW, says that the group is now focussing on the chemical modification of DNA that leads to this functional change.

"This may help us identify individuals who are at risk of developing cancer," Professor Ward said. "If these individuals are screened by colonoscopy, bowel cancer can be found at an early stage. Removing polyps or cancers at such an early stage allows for normal life expectancy."

The other members of the team are Dr Catherine Suter of St Vincent's Hospital and Victor Chang's Professor David Martin.