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J Med Genet 2007;44:353-362 doi:10.1136/jmg.2007.048991
  • Review

Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)

  1. H F A Vasen1,*,
  2. G Möslein2,*,
  3. A Alonso3,
  4. I Bernstein4,
  5. L Bertario5,
  6. I Blanco6,
  7. J Burn7,
  8. G Capella8,
  9. C Engel9,
  10. I Frayling10,
  11. W Friedl11,
  12. F J Hes12,
  13. S Hodgson13,
  14. J-P Mecklin14,
  15. P Møller15,
  16. F Nagengast16,
  17. Y Parc17,
  18. L Renkonen-Sinisalo18,
  19. J R Sampson10,
  20. A Stormorken19,
  21. J Wijnen12
  1. 1Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands
  2. 2Department of Surgery, St Josefs Hospital Bochum-Linden (Helios), Bochum, Germany
  3. 3Department of Medical Genetics, Hospital Virgen del Camino, Pamplona, Spain
  4. 4Department of Gastroenterology, Hvidrove Hospital, Hvidrove, Denmark
  5. 5Department of Surgery, Hospital Tumori, Milan, Italy
  6. 6Department of Genetic Counselling, Prevention and Cancer, Catelonian Institute of Oncology, Barcelona, Spain
  7. 7Institute of Human Genetics, Newcastle upon Tyne, UK
  8. 8Translational Research Laboratory IDIBELL, Institut Catala D’Oncologia, Barcelona, Spain
  9. 9Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany
  10. 10Institute of Medical Genetics, Cardiff, UK
  11. 11Institute of Human Genetics, University Clinics, Bonn, Germany
  12. 12Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
  13. 13Department of Clinical Genetics, St George’s Hospital, London, UK
  14. 14Department of Surgery, Jyvaskyla Central Hospital, Jyvaskyla, Finland
  15. 15Department of Genetics, Norwegian Radium Hospital, Oslo, Norway
  16. 16Department of Gastroenterology, University Medical Centre, Radboud, Nijmegen, The Netherlands
  17. 17Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France
  18. 18Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland
  19. 19Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway
  1. Correspondence to:
 Dr H F A Vasen
 Department of Gastroenterology, Leiden University Medical Centre & The Netherlands Foundation for the Detection of Hereditary Tumours, Rijnsburgerweg 10, 2333 AA Leiden, The Netherlands; hfavasen{at}stoet.nl
  • Received 8 January 2007
  • Accepted 14 February 2007
  • Revised 12 February 2007
  • Published Online First 27 February 2007

Abstract

Lynch syndrome (hereditary non-polyposis colorectal cancer) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. The discovery of these genes, 15 years ago, has led to the identification of large numbers of affected families. In April 2006, a workshop was organised by a group of European experts in hereditary gastrointestinal cancer (the Mallorca-group), aiming to establish guidelines for the clinical management of Lynch syndrome. 21 experts from nine European countries participated in this workshop. Prior to the meeting, various participants prepared the key management issues of debate according to the latest publications. A systematic literature search using Pubmed and the Cochrane Database of Systematic Reviews reference lists of retrieved articles and manual searches of relevant articles was performed. During the workshop, all recommendations were discussed in detail. Because most of the studies that form the basis for the recommendations were descriptive and/or retrospective in nature, many of them were based on expert opinion. The guidelines described in this manuscript may be helpful for the appropriate management of families with Lynch syndrome. Prospective controlled studies should be undertaken to improve further the care of these families.

Footnotes

  • ↵* Lynch syndrome-related tumours include colorectal, endometrial, stomach, ovarian, pancreas, ureter, renal pelvis, biliary tract and brain tumours, sebaceous gland adenomas and keratoacanthomas, and carcinoma of the small bowel.

  • ↵* HFAV and GM contributed equally to the preparation of this manuscript.

  • Published Online First 2 March 2007

  • Competing interests: None declared.

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