abstract: Revised Bethesda Guidelines: compliance in identifying HNPCC affected families (Lynch Syndrome)

Conclusion
Based on these results, there is a marked incompliance with revised Bethesda guidelines when assessing patients with colorectal cancer. This has a significant impact on clinical pathways for the management of HNPCC  (Lynch Syndrome) families.

abstract/free full access: Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers -- Sjursen et al. -- Journal of Medical Genetics

Conclusion:
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.