Patients at risk of familial colorectal cancer

摘要

Management of hereditary non-polyposis colorectal cancer (HNPCC) is a textbook example for the translation of molecular knowledge into clinical decision making. Different mutations in mismatch repair genes were identified on the basis of clustering of colorectal and associated cancers in affected families. In the meantime adequate proof that colonoscopic surveillance indeed reduces incidence of and morbidity from HNPCC had been obtained. The situation, however, is less clear in individuals at moderate risk of colorectal cancer because of a positive family history but not fulfilling any of the Amsterdam or Bethesda criteria. Dove-Edwin and colleagues have to be commended for providing urgently needed data on this group of patients in their paper in this week's BMJ.