New technique identifies important mutations behind Lynch syndrome

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Family history ranks high among for developing colorectal , and people with such a history are often advised to get more frequent screening tests or start screening sooner than the recommended age of 45 years old. Those with a family history of cancer often seek out genetic tests to look for mutations linked to cancer risk. However, those tests don't always provide helpful information.


To do this, they used a genetic condition called Lynch syndrome, also known as hereditary non-polyposis . Like BRCA1, a gene known to cause certain breast cancers, there are a handful of genes behind Lynch syndrome that have been well described. However, "there's a whole universe of possible genetic variants that can occur in genes associated with Lynch syndrome that we basically know nothing about," says Kitzman.





The counterintuitive idea, notes Kitzman, is that the surviving are the ones without functioning MSH2—which are the ones with mutations that are most likely to be disease-causing.

"We were basically trying to sit down and make the we could so they could serve as a reference for ones that are newly seen or are amongst the thousands of variants of unknown significance identified in people from clinical testing," says Kitzman. "Until now, geneticists could not be sure whether these are benign or pathogenic."


Says Kitzman, "One of the next areas that will need some focus in the field of human genetics is to create these sorts of maps for many different where there is a clinical connection, so we can be more predictive when variants are found in an individual."

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More information: Xiaoyan Jia et al, Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk, The American Journal of Human Genetics (2020). DOI: 10.1016/j.ajhg.2020.12.003
Citation: New technique identifies important mutations behind Lynch syndrome (2021, January 29) retrieved 2 July 2022 from https://medicalxpress.com/news/2021-01-technique-important-mutations-lynch-syndrome.html

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