Editorials

Patients at risk of familial colorectal cancer

BMJ 2005; 331 doi: https://doi.org/10.1136/bmj.331.7524.1033 (Published 03 November 2005) Cite this as: BMJ 2005;331:1033
  1. Hanns-Peter Knaebel (hanns-peter.knaebel@med.uni-heidelberg.de), consultant surgeon,
  2. Peter Kienle, consultant surgeon
  1. Department of Surgery, University of Heidelberg, Im Neuenheimer Feld 110, 69120 Heidelberg, Germany
  2. Department of Surgery, University of Heidelberg, Im Neuenheimer Feld 110, 69120 Heidelberg, Germany

    Surveillance of patients not covered by established criteria is controversial

    What is ordinary? The single case!

    What is special? Millions of cases!

    Johann Wolfgang von Goethe (1749-1832)1

    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.2 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.3 4 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.5

    In 1913 Aldred Warthin, a pathologist, published a family pedigree including several hereditary tumours6 that matches our present HNPCC criteria put forward by Lynch in …

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