Weissman SM, Burt R, Church J, et al. Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors [NSGC] and the Collaborative Group of the Americas on Inherited Colorectal Cancer [CGA-ICC] Joint Practice Guideline. J Genet Couns. 2012; 21 484-493. [Abstract]

Summary: This guideline does not specifically recommend universal testing for LS. However, the NSGC and CGA-ICC endorse IHC tumor testing as the preferred method of screening when universal testing for LS is being implemented in newly diagnosed colon and/or endometrial cancer patients. No recommendation was made about the use of MLH1 promoter methylation and/or BRAF testing after abnormal MLH1 and PMS2 results from IHC. This guideline also provides a review of the literature on LS with emphasis on tumor analysis and testing algorithms.