Scientists Identify Genetic Loci For Lynch Syndrome

Scientists can now identify more accurately people at high risk for Lynch Syndrome, an inherited, familial condition that increases the risk of bowel and endometrial cancer.

AsianScientist (Dec. 30, 2013) – Researchers have developed a more accurate way of identifying people at high risk of bowel and endometrial cancer.

Associate Professor Amanda Spurdle and PhD student Bryony Thompson at the QIMR Berghofer Medical Research Institute 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,” said Spurdle.

The research focused 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 five percent of cases.

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

 “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,” she said.

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 Tumors (InSiGHT) committee pooled data from across the world on thousands of different gene changes.

“Through this collaborative effort, we can be confident of our counseling 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,” said Spurdle.

The article can be found at: Thompson B et al. (2013) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.


Source: QIMR Berghofer Medical Research Institute; Photo: fotosinteresantes/Flickr/CC.
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