Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

Journal of Medical Genetics, 07/09/2010

Amsterdam criteria and each of the Bethesda criteria were inadequate for identifying MSH6 mutation–carrying kindreds. MSH6 mutations may be more common than currently assumed, and the penetrance/expression of MSH6 mutations, as derived from families meeting current clinical criteria, may be misleading. To increase detection rate of MMR mutation carriers, all cancers in the Lynch syndrome tumour spectrum should be subjected to immunohistochemical analysis and/or analysis for microsatellite instability.

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