Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology.

Provenzale D, Gupta S, Ahnen DJ, Bray T, Cannon JA, Cooper G, David DS, Early DS, Erwin D, Ford JM, Giardiello FM, Grady W, Halverson AL, Hamilton SR, Hampel H, Ismail MK, Klapman JB, Larson DW, Lazenby AJ, Lynch PM, Mayer RJ, Ness RM, Regenbogen SE, Samadder NJ, Shike M, Steinbach G, Weinberg D, Dwyer M, Darlow S
J Natl Compr Canc Netw 14 1010-30 08/01/2016

Abstract

This is a focused update highlighting the most current NCCN Guidelines for diagnosis and management of Lynch syndrome. Lynch syndrome is the most common cause of hereditary colorectal cancer, usually resulting from a germline mutation in 1 of 4 DNA mismatch repair genes (MLH1, MSH2, MSH6, or PMS2), or deletions in the EPCAM promoter. Patients with Lynch syndrome are at an increased lifetime risk, compared with the general population, for colorectal cancer, endometrial cancer, and other cancers, including of the stomach and ovary. As of 2016, the panel recommends screening all patients with colorectal cancer for Lynch syndrome and provides recommendations for surveillance for early detection and prevention of Lynch syndrome-associated cancers.

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