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Mismatch repair deficient cancers & Lynch syndrome

Published on November 30, 2023   39 min

A selection of talks on Vaccines

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Hello, my name is John Burn. I'm Professor of Clinical Genetics at Newcastle University. I have a special interest in hereditary cancers and their prevention. I'd like to talk to you today about mismatch repair deficiency and Lynch syndrome.
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We named this syndrome after Henry Lynch who was a gastroenterologist in Omaha, Nebraska. He spent many years popularizing the fact that in some families, colorectal and other cancers seem to run as a hereditary trait, as a simple dominant trait. This is a family that was pivotal in the discovery of the underlying cause of this syndrome, a family from the North of England, where as you can see shaded in yellow, multiple members of the family developed mostly colorectal but also endometrial cancers. We shared DNA from this family with a team in Boston who had an idea from their work on yeast, which proved to be correct, that the underlying causative gene was the MSH2 gene. That was published in 1993 and subsequently we realized this is actually a very common condition. We're now tracking more than 8000 people across Europe and beyond with this condition to look at the pattern of the disease. You can see that by the age of 75 about 80 percent of people with an MSH2 pathogenic variant will develop cancer in one of multiple areas, particularly of the colon endometrium and urothelial tract. This is one of four genes from this system which has been implicated in the underlying cause of Lynch Syndrome. MSH2 pairs up with MSH6 and MLH1 with PMS2. There's repair clamp around mismatches where the replication of DNA has gone wrong and it needs to be corrected, and there is a physical failure of the bases to combine which is identified by this system. We now know that at least one in 300 people carry a pathogenic variant in one of these four genes with differing patterns of cancer as a result.

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Mismatch repair deficient cancers & Lynch syndrome

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