Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer

open access

Index

Abstract

INTRODUCTION

FAMILIAL CRC WITH DEFECTIVE DNA MISMATCH REPAIR

FAMILIAL CRC WITH INTACT DNA MISMATCH REPAIR

CONCLUSION

References

 Core tip: Clinical criteria and phenotypic presentation of patients and families with hereditary non-polyposis colorectal cancer (HNPCC) do not adequately differentiate the several genetic diseases now classified under HNPCC. Tumor analysis for microsatellite instability (MSI) can dichotomize for the clinician conditions with MSI or without MSI, allowing a focused differential diagnosis. Individual or panel germline genetic testing can further differentiate HNPCC into its genetically defined syndromes or its phenocopies.