Somatic vs Germline Lynch Syndrome

Posted by brownsf @brownsf, Mar 15 11:20am

I was diagnosed with Lynch Syndrome based on pathology reports on two different colon polyps, both of which noted MLH1 loss. I understand there's a big difference between somatic and germline Lynch Syndrome. Can anyone explain this and how to determine which it is?

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Colleen Young, Connect Director | @colleenyoung | 4 days ago

@brownsf, here's an article that helps to explain:
- Differentiating Lynch-like from Lynch Syndrome https://pmc.ncbi.nlm.nih.gov/articles/PMC4134259/

In plainer language, see this article:
- Constitutional (germline) vs somatic (tumour) variants https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/constitutional-germline-vs-somatic-tumour-variants
"Constitutional (also known as germline) variants are present in all the body’s cells, including the germ cells, and can therefore be passed on to offspring; somatic variants arise during an individual’s lifetime in tissues other than the germ cells and so are not passed on."

brownsf | @brownsf | 4 days ago

In reply to @colleenyoung "@brownsf, here's an article that helps to explain: - Differentiating Lynch-like from Lynch Syndrome https://pmc.ncbi.nlm.nih.gov/articles/PMC4134259/ In..." + (show)

Thanks! Very helpful.

I'm a patient at UCSF. They have people who specialize in Lynch Syndrome and are ordering a MLH1 Promoter Methylation test on the polyps to sort this out.