Surgical Pathology Criteria

Hereditary Non-polyposis Colorectal Carcinoma Syndrome (HNPCC)

Supplemental Studies

Immunohistologic and Genetic Differences between Familial and Sporadic Cases
  Familial Sporadic
Immunohistologic loss of MLH1 and PMS2 May occur Virtually all
Immunohistologic loss of MSH2 or MSH6 May occur Very rare
MSI-H Yes Yes
Germline mismatch gene mutation Yes No
MLH1 genetic defect Most are nonsense or frame shifts Most are promoter methylation
BRAF mutation Rare Yes


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