Talk:Microsatellite instability in colorectal cancer

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Heterogenous staining

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463865/

MLH1 loss and BRAF V600E

"... epigenetic inactivation of MLH1 in tumors that often carry mutations in oncogenic BRAFV600E." https://pubmed.ncbi.nlm.nih.gov/25386108/

"If a BRAF V600E mutation is present, loss of MLH1 is likely sporadic in nature and MLH1 hypermethylation testing is not indicated."

Unusually MMR loss

https://pmc.ncbi.nlm.nih.gov/articles/PMC8860743/ - isolated MSH6 and isolated PMS2 are the most common of the uncommon loss patterns

Algorithm

MLH1/PMS2 loss --> BRAF testing and MLH1 hypermethylation testing https://www.mayocliniclabs.com/-/media/it-mmfiles/Special-Instructions/C/2/7/Lynch_Syndrome_Testing_Algorithm