A more accurate way to identify those at a high risk of bowel or endometrial cancer has been discovered by cancer scientists in Queensland.
Researchers at the QIMR Berghofer Medical Research Institute led a global effort to refine genetic information in an international database, meaning GPs will have the ability to access the publicly-available data and give patients a truer picture of their familial risk.
This global project arose from the issues many GPs and patients seemed to be having from inconclusive results when tested for Lynch Syndrome – an inherited condition that increases the risk of bowel and endometrial cancer.
Associate Professor Amanda Spurdle, who led the project, said, “The model – using the expertise of researchers and clinicians across the world with a particular knowledge of a rare disease – essentially turns indecipherable sequencing data into real knowledge that can have a clinical benefit.”
“As a result of this work, doctors can more conclusively say whether those patients have Lynch Syndrome, and therefore whether they are at a higher risk of getting another cancer.
“The reverse of that is that we may also ease the worry of some people who’ve had inconclusive results.”
The research team involved Professor Maurizio Genuardi from the University of Florence and Professor Finlay Macrae from the Royal Melbourne Hospital. The International Society for Gastrointestinal Tumours (InSiGHT) committee pooled data from across the world on thousands of different gene changes.
“Through this collaborative effort, we can be confident of our counselling advice to families, offer them testing for the gene fault, and, if they carry it, help them closely monitor their health and take preventative measures,” Associate Professor Spurdle said.
The findings of this project can be found in esteemed research journal Nature Genetics.
The ACRF is proud to have supported QIMR Berghofer Medial Research Institute, having provided more than $6 Million in research grant funding since 2002.