04:13pm Monday 24 February 2020


Associate Professor Amanda Spurdle and PhD student Bryony Thompson led a global effort to refine genetic information in an international database. It means doctors can now access the publicly-available data and give patients a truer picture of their familial risk.

“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,” Associate Professor Spurdle said.

The research focussed on the genetic faults responsible for Lynch Syndrome, an inherited, familial condition that increases the risk of bowel and endometrial cancer.  Lynch Syndrome is responsible for up to 5% of cases.

“Some patients who have genetic testing for Lynch Syndrome are told they have ‘variants of uncertain significance’ which is an inconclusive result,” Associate Professor Spurdle said.

“These people are left in a kind of genetic limbo, unsure of whether they face the higher risk of cancer, or whether their family members are also at risk.”

“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 was coordinated by 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 are published today in Nature Genetics and can be viewed at http://dx.doi.org/10.1038/ng.2854
QIMR Berghofer scientists were funded by Cancer Council Australia and Cancer Council Queensland, and the InSiGHT database and curator John-Paul Plazzer were supported by The Royal Melbourne Hospital Foundation, The Hicks Foundation, and the Cancer Council of Victoria.

CANCER FACTS:  Bowel cancer kills about 4000 Australians each year, making it the second leading cause of cancer death. 14,000 new cases are diagnosed annually.  Endometrial (uterine) cancer is the most common gynaecological cancer, killing 300 Australian women a year. There are about 2000 cases annually.

QIMR Berghofer Medical Research Institute is a world leading translational research institute. Our research focuses on cancer, infectious diseases, mental health and a range of complex diseases. Working in close collaboration with clinicians and other research institutes, our aim is to improve health by developing new diagnostics, better treatments and prevention strategies.

QIMR Berghofer gratefully acknowledges the support of the Queensland Government.

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