Guidelines for the clinical management of Lynch syndrome (HNPCC)

Hans F.A. Vasen ^1*, Gabriele Möslein ², Angel Alonso ³, Inge Bernstein ⁴, Lucio Bertario ⁵, Ignacio Blanco ⁶, John Burn ⁷, Gabriel Capella ⁸, Christoph Engel ⁹, Ian Frayling ¹⁰, Waltraut Friedl ¹¹, Frederik J. Hes ¹², Shirley Hodgson ¹³, Jukka-Pekka Mecklin ¹⁴, Pål Møller ¹⁵, Fokko N. Nagengast ¹⁶, Yann Parc ¹⁷, Laura Renkonen-Sinisalo ¹⁸, Julian R. Sampson ¹⁰, Astrid Stormorken ¹⁹ and Juul Wijnen ¹²

¹ Department of Gastroenterology, Leiden University Medical Centre, Netherlands
² Department of Surgery, St.Josefs Hospital Bochum-Linden (Helios), Bochum, Germany
³ Department of Medical Genetics, Hospital Virgen del Camino, Pamplona, Spain
⁴ Department of Gastroenterology, Hvidrove Hospital, Hvidrove, Denmark
⁵ Department of Surgery, Hospital Tumori, Milan, Italy
⁶ Department of Genetic Counselling, Prevention and Cancer, Catelonian Inst. of Oncology, Barcelona, Spain
⁷ Institute of Human Genetics, New Castle upon Tyne, United Kingdom
⁸ Institute Catala D'Oncologia, Barcelona, Spain
⁹ Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig, Germany
¹⁰ Institute of Medical Genetics, Cardiff, United Kingdom
¹¹ Institute of Human Genetics, University Clinics, Bonn, Germany
¹² Department of Clinical Genetics, Leiden University Medical Centre, Netherlands
¹³ Department of Clinical Genetics, St. George's Hospital, London, United Kingdom
¹⁴ Department of Surgery, Jyvaskyla Central Hospital, Jyvaskyla, Finland
¹⁵ Department of Genetics, Norwegian Radium Hospital, Oslo, Norway
¹⁶ Department of Gastroenterology, University Medical Centre, Radboud, Nijmegen, Netherlands
¹⁷ Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France
¹⁸ Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland
¹⁹ Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway

^* To whom correspondence should be addressed. E-mail: hfavasen{at}stoet.nl.

Accepted 14 February 2007

Abstract

The Lynch syndrome (HNPCC) is characterized by the development of colorectal cancer, endometrial cancer and various other cancers and is caused by a mutation in one of the mismatch repair (MMR) 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 organized by a group of European experts in Hereditary Gastrointestinal Cancer (the Mallorca-group) aiming to establish guidelines for the clinical management of Lynch syndrome. Twenty-one 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 of nature, many of them were based on expert opinion. The guidelines described in this manuscript may be helpful to the appropriate management of Lynch syndrome families. In order to further improve the care of these families, prospective controlled studies should be undertaken.

Keywords: Lynch syndrome, MSI, guidelines, immunohistochemistry, surveillance

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