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QIMR helps pinpoint cancer-causing genes – Lynch syndrome risk factors, symptoms


QIMR researchers have worked out how to better identify people at high risk of bowel and endometrial cancer, so they can be targeted for preventive measures.

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 colorectal 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’s Human Mutation early view.

The research was funded by Cancer Australia.

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