QIMR’s Dr Amanda Spurdle has led research into the genetic variants responsible for Lynch Syndrome, an inherited, familial condition that increases the risk of bowel and endometrial cancer.
“Some patients who have genetic testing for Lynch Syndrome are told they have ‘variants of uncertain significance’ which is an inconclusive result,” Dr Spurdle said.
“These people are left in a kind of genetic limbo, unsure of whether they will develop a second cancer, or whether their family members are also at risk.
“We’ve developed a statistical model which means 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.”
Lynch Syndrome is an inherited form of cancer responsible for up to 5% of cases of bowel cancer and 2% of cases of endometrial cancer.
Dr Spurdle was involved in two separate studies into the genetic variants responsible for the syndrome. Together they showed it was possible to get a more accurate “grading” of a person’s risk, when researchers introduced more clinical data, including features of tumours, into the equation, and standardised existing computer modelling for genetic variants.
“This classification model will be valuable for genetic testing services, to help investigate newly discovered variants in genes, and for doctors to determine the best clinical management strategies for patients and their families,” Dr Spurdle said.
The studies were published in this month’sHuman Mutation Early View e-publication.
The research was funded by Cancer Australia.
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.
The Queensland Institute of Medical Research (QIMR)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 gratefully acknowledges the support of the Queensland Government.
For more information about QIMR, visitwww.qimr.edu.au