Difference between revisions of "Talk:Microsatellite instability in colorectal cancer"
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==MLH1 loss and BRAF V600E== | ==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/ | "... 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== | ==Unusually MMR loss== | ||
Revision as of 15:23, 19 March 2025
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