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Guidelines for the clinical management of familial adenomatous polyposis (FAP).
  1. Hans F A Vasen (hfavasen{at}stoet.nl)
  1. Leiden University Medical Centre, Netherlands
    1. Gabriela Moeslein
    1. St.Josefs Hospital Bochum-Linden (Helios), Germany
      1. Angel Alonso
      1. Hospital Virgen del Camino, Spain
        1. Stefan Aretz
        1. University of Bonn, Germany
          1. Inge Bernstein
          1. Hvidovre University Hospital, Denmark
            1. Lucio Bertario
            1. Hospital Tumori, Milan, Italy
              1. Ignacio Blanco
              1. Catalan Institute of Oncology, Spain
                1. Steffen Bulow
                1. Hvidovre University Hospital, Denmark
                  1. John Burn
                  1. Institute of Human Genetics, United Kingdom
                    1. Gabriel Capella
                    1. Institute Catala D'Oncologia, Spain
                      1. Chrystelle Colas
                      1. Groupe Hospitalier Pitié-Salpêtriere, France
                        1. Christoph Engel
                        1. University of Leipzig, Germany
                          1. Ian Frayling
                          1. Institute of Medical Genetics, United Kingdom
                            1. Waltraut Friedl
                            1. University of Bonn, Germany
                              1. Frederik Hes
                              1. Leiden University Medical Centre, Netherlands
                                1. Shirley Hodgson
                                1. St. George's Hospital, United Kingdom
                                  1. Heiki Jarvinen
                                  1. Helsinki University Central Hospital, Finland
                                    1. Jukka-Pekka Mecklin
                                    1. Jyvaskyla Central Hospital, Finland
                                      1. Pal Moller
                                      1. Rikshospitalet-Radium Hospitalet Medical Centre, Norway
                                        1. Torben Myrhoj
                                        1. Hvidovre University Hospital, Denmark
                                          1. Fokko M Nagengast
                                          1. Radboud University Medical Centre, Netherlands
                                            1. Yann Parc
                                            1. Hospital Saint-Antoine, University Pierre et Marie, France
                                              1. Robin Phillips
                                              1. St. Mark's Hospital, United Kingdom
                                                1. Sue Clark
                                                1. St. Mark's Hospital, United Kingdom
                                                  1. Maurizio Ponz de Leon
                                                  1. Universtiy Hospital, Modena,, Italy
                                                    1. Laura Renkonen-Sinisalo
                                                    1. Helsinki University Central Hospital, Finland
                                                      1. Julian Sampson
                                                      1. Institute of Medical Genetics, School of Medicine, Cardiff University, United Kingdom
                                                        1. Astrid Stormorken
                                                        1. Ullevål University Hospital, Norway
                                                          1. Sabine Tejpar
                                                          1. University Hospital Gasthuisberg, Belgium
                                                            1. Huw Thomas
                                                            1. St Mark’s Hospital, United Kingdom
                                                              1. Juul Wijnen
                                                              1. Leiden University Medical Centre, Netherlands

                                                                Abstract

                                                                Familial adenomatous polyposis (FAP) is a well-described inherited syndrome, which is responsible for <1% of all colorectal cancer (CRC) cases. The syndrome is characterized 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 familial adenomatous polyposis gene has been identified, the so-called MUTYH-gene, which has an autosomal recessive pattern of inheritance. In April 2006 and February 2007, a workshop was organized in Mallorca by European experts on Hereditary Gastrointestinal Cancer aiming to establish guidelines for the clinical management of FAP and to initiate collaborative studies. Twenty-eight 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 in this manuscript 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.

                                                                • APC-gene
                                                                • Familial adenomatous polyposis
                                                                • MUTYH-gene
                                                                • guidelines
                                                                • management

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