Guidelines

Guidelines for the clinical management of familial adenomatous polyposis (FAP)

H F A Vasen¹, G Möslein², A Alonso³, S Aretz⁴, I Bernstein⁵, L Bertario⁶, I Blanco⁷, S Bülow⁸, J Burn⁹, G Capella¹⁰, C Colas¹¹, C Engel¹², I Frayling¹³, W Friedl⁴, F J Hes¹⁴, S Hodgson¹⁵, H Järvinen¹⁶, J-P Mecklin¹⁷, P Møller¹⁸, T Myrhøi⁵, F M Nagengast¹⁹, Y Parc²⁰, R Phillips²¹, S K Clark²¹, M Ponz de Leon²², L Renkonen-Sinisalo¹⁶, J R Sampson¹³, A Stormorken²³, S Tejpar²⁴, H J W Thomas²⁵, J Wijnen¹⁴

¹ Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The 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 Institute of Human Genetics, University of Bonn, Germany
⁵ Danish HNPCC-register, Hvidovre University Hospital, Hvidovre, Denmark
⁶ Department of Surgery, Hospital Tumori, Milan, Italy
⁷ Genetic Counselling Unit, Prevention and Cancer Control Department, Catalan Institute of Oncology, Barcelona, Spain
⁸ Department of Surgery, Hvidovre University Hospital, Hvidovre, Denmark
⁹ Institute of Human Genetics, Newcastle-upon-Tyne, UK
¹⁰ Institute Catala D’Oncologia, Barcelona, Spain
¹¹ Laboratoire d’Oncogenetique, Groupe Hospitalier Pitié-Salpêtre, Paris
¹² Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany
¹³ Institute of Medical Genetics, School of Medicine, Cardiff University, UK
¹⁴ Department of Clinical Genetics, Leiden University Medical Centre, The Netherlands
¹⁵ Department of Clinical Genetics, St George’s Hospital, London, UK
¹⁶ Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland
¹⁷ Department of Surgery, Jyvaskyla Central Hospital, Jyvaskyla, Finland
¹⁸ Section of Inherited Cancer, Department of Medical Genetics, Rikshospitalet-Radium Hospitalet Medical Centre, Oslo, Norway
¹⁹ Department of Gastroenterology and Hepatology, Radboud University Medical Centre, Nijmegen, The Netherlands
²⁰ Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France
²¹ Department of Surgery, St Mark’s Hospital, Harrow, Middlesex, UK
²² Department of Internal Medicine, Universtiy Hospital, Modena, Italy
²³ Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway
²⁴ Digestive Oncology Unit, Department of Internal Medicine, University Hospital Gasthuisberg, Leuven, Belgium
²⁵ CRUK, Family Cancer Group, St Mark’s Hospital, Harrow, Middlesex, UK

Dr H F A Vasen, Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Rijnsburgerweg 10, 2333 AA Leiden, The Netherlands; hfavasen{at}stoet.nl

Background: Familial adenomatous polyposis (FAP) is a well-described inherited syndrome, which is responsible for <1% of all colorectal cancer (CRC) cases. The syndrome is characterised by the development of hundreds to thousands of adenomas in the colorectum. Almost all patients will develop CRC if they are not identified and treated at an early stage. The syndrome is inherited as an autosomal dominant trait and caused by mutations in the APC gene. Recently, a second gene has been identified that also gives rise to colonic adenomatous polyposis, although the phenotype is less severe than typical FAP. The gene is the MUTYH gene and the inheritance is autosomal recessive. In April 2006 and February 2007, a workshop was organised in Mallorca by European experts on hereditary gastrointestinal cancer aiming to establish guidelines for the clinical management of FAP and to initiate collaborative studies. Thirty-one experts from nine European countries participated in these workshops. Prior to the meeting, various participants examined the most important management issues according to the latest publications. A systematic literature search using Pubmed and 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 herein may be helpful in the appropriate management of FAP families. In order to improve the care of these families further, prospective controlled studies should be undertaken.

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