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Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
  1. Hans F A Vasen1,
  2. Ignacio Blanco2,
  3. Katja Aktan-Collan3,
  4. Jessica P Gopie4,
  5. Angel Alonso5,
  6. Stefan Aretz6,
  7. Inge Bernstein7,
  8. Lucio Bertario8,
  9. John Burn9,
  10. Gabriel Capella2,
  11. Chrystelle Colas10,
  12. Christoph Engel11,
  13. Ian M Frayling12,
  14. Maurizio Genuardi13,
  15. Karl Heinimann14,
  16. Frederik J Hes4,
  17. Shirley V Hodgson15,
  18. John A Karagiannis16,
  19. Fiona Lalloo17,
  20. Annika Lindblom18,
  21. Jukka-Pekka Mecklin19,
  22. Pal Møller20,
  23. Torben Myrhoj7,
  24. Fokko M Nagengast21,
  25. Yann Parc22,
  26. Maurizio Ponz de Leon23,
  27. Laura Renkonen-Sinisalo24,
  28. Julian R Sampson12,
  29. Astrid Stormorken20,
  30. Rolf H Sijmons25,
  31. Sabine Tejpar26,
  32. Huw J W Thomas27,
  33. Nils Rahner28,
  34. Juul T Wijnen4,
  35. Heikki Juhani Järvinen24,
  36. Gabriela Möslein29,
  37. (the Mallorca group)
  1. 1Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands
  2. 2Hereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Spain
  3. 3Department of Medical Genetics Haartman Institute Biomedicum, University of Helsinki, Helsinki, Finland
  4. 4Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
  5. 5Department of Medical Genetics, Complejo Hospitalario de Navarre, Pamplona, Spain
  6. 6Institute of Human Genetics, University Hospital, Bonn, Germany
  7. 7The Danish HNPCC-Register, Department of Gastroenterology and Clinical Research Center, Copenhagen University Hospital, Hvidovre, Denmark
  8. 8Department of Surgery, Hospital Tumori, Milan, Italy
  9. 9Institute of Human Genetics, Newcastle upon Tyne, UK
  10. 10Department of Genetics, Hospital Pitié-Salpêtrière AP.HP, Paris, France
  11. 11Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany
  12. 12Institute of Medical Genetics, Cardiff University and Universitiy Hospital of Wales, Cardiff, UK
  13. 13Department of Clinical Pathophysiology, University of Florence, and Tuscan Tumor Institute, Florence, Italy
  14. 14Division of Medical Genetics and Department of Biomedicine, University of Children's Hospital, Basel, Switzerland
  15. 15Department of Clinical Genetics, St George's University of London Hospital, London, UK
  16. 16Department of Gastroenterology, Konstantopoulio University Hospital, Athens, Greece
  17. 17Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Scientist Centre, Manchester, UK
  18. 18Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
  19. 19Department of Surgery, Jyvaskyla Central Hospital, Jyvaskyla & Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland
  20. 20Department of Medical Genetics, The Norwegian Radium Hospital University Hospital, Oslo, Norway
  21. 21Department of Gastroenterology, University Medical Centre Radboud, Nijmegen, The Netherlands
  22. 22Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France
  23. 23Department of Internal Medicine, Universtiy Hospital, Modena, Italy
  24. 24Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland
  25. 25Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands
  26. 26Digestive Oncology Unit, Department of Internal Medicine, University Hospital Gasthuisberg, Leuven, Belgium.
  27. 27Family Cancer Clinics, St Mark's Hospital, CRUK Cancer Centre, Imperial College London, Harrow, UK
  28. 28Medical Faculty, Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany
  29. 29Department of Surgery, HELIOS St Josefs Hospital Bochum-Linden (Helios), Bochum, Germany
  1. Correspondence to Professor Dr Hans F A Vasen, Dutch Hereditary Cancer Registry & Department of Gastroenterology, Leiden University Medical Centre, Rijnsburgerweg 10, Leiden 2333 AA, The Netherlands; hfavasen{at}stoet.nl

Abstract

Lynch syndrome (LS) 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. In 2007, a group of European experts (the Mallorca group) published guidelines for the clinical management of LS. Since then substantial new information has become available necessitating an update of the guidelines. In 2011 and 2012 workshops were organised in Palma de Mallorca. A total of 35 specialists from 13 countries participated in the meetings. The first step was to formulate important clinical questions. Then a systematic literature search was performed using the Pubmed database and manual searches of relevant articles. During the workshops the outcome of the literature search was discussed in detail. The guidelines described in this paper may be helpful for the appropriate management of families with LS. Prospective controlled studies should be undertaken to improve further the care of these families.

  • HNPCC SYNDROME
  • GASTROINTESTINAL CANCER
  • COLORECTAL CANCER GENES
  • COLORECTAL CARCINOMA
  • CANCER GENETICS

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