• Concurrent loss of MLH1 and PMS2 suggests MLH1 inactivation, which may be due to either germline mutation (Lynch syndrome) or somatic MLH1 promoter hypermethylation (sporadic cases). BRAF V600E mutation or MLH1 methylation testing can help distinguish sporadic from hereditary cases.
• Loss of MSH2 and MSH6 indicates MSH2 gene inactivation, which is highly specific for Lynch syndrome, but can also result from EPCAM deletions.
• Isolated loss of MSH6 or PMS2 typically reflects a germline mutation in the respective gene.
• Partial or clonal loss may also be significant and warrants further genetic evaluation.
https://pmc.ncbi.nlm.nih.gov/articles/PMC9300166/
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