EGAPP Working Group

Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med. 2009;11:35-41.[Full Text]

Palomaki GE, McClain MR, Melillo S, et al. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med. 2009;11:42-65. [Full Text]

Summary: The EGAPP Working Group found sufficient evidence to recommend offering genetic testing for Lynch syndrome to people with newly diagnosed CRC due to its ability to reduce morbidity and mortality in relatives. Due to the poor performance of the Amsterdam and Bethesda criteria, the Working Group does not recommend use of family history criteria to exclude individuals from screening. Cost effectiveness analyses were performed but did not provide evidence in favor of recommending one specific universal screening strategy (i.e., MSI vs. IHC vs. IHC plus BRAF). The group also recommended that informed consent be obtained prior to routine tumor testing.