open access: Microsatellite Instability and DNA Mismatch Repair Protein Deficiency in Lynch Syndrome Colorectal Polyps - multinational study

Blogger's Note: as determined by the title, focus is on colorectal cancer in Lynch Syndrome; see also prior posting Diagnosing Lynch Syndrome: More Light at the End of the Tunnel which gives a more comprehensive overall view of Lynch Syndrome

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Microsatellite Instability and DNA Mismatch Repair Protein Deficiency in Lynch Syndrome Colorectal Polyps

"Lynch syndrome results from germline mutations in one
of the genes involved with DNA mismatch repair (MMR):
MLH1, MSH2, MSH6, PMS2, or EPCAM/TACSTD."

"The aim of this study was to determine the prevalence
of MSI and loss of MMR protein expression by immunohistochemistry
in colorectal polyps from patients with genetically confirmed Lynch syndrome."