Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
Identifieur interne : 000E02 ( Istex/Corpus ); précédent : 000E01; suivant : 000E03Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
Auteurs : Hans F A. Vasen ; Ignacio Blanco ; Katja Aktan-Collan ; Jessica P. Gopie ; Angel Alonso ; Stefan Aretz ; Inge Bernstein ; Lucio Bertario ; John Burn ; Gabriel Capella ; Chrystelle Colas ; Christoph Engel ; Ian M. Frayling ; Maurizio Genuardi ; Karl Heinimann ; Frederik J. Hes ; Shirley V. Hodgson ; John A. Karagiannis ; Fiona Lalloo ; Annika Lindblom ; Jukka-Pekka Mecklin ; Pal M Ller ; Torben Myrhoj ; Fokko M. Nagengast ; Yann Parc ; Maurizio Ponz De Leon ; Laura Renkonen-Sinisalo ; Julian R. Sampson ; Astrid Stormorken ; Rolf H. Sijmons ; Sabine Tejpar ; Huw J W. Thomas ; Nils Rahner ; Juul T. Wijnen ; Heikki Juhani J Rvinen ; Gabriela MösleinSource :
- Gut [ 0017-5749 ] ; 2013-06.
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.
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DOI: 10.1136/gutjnl-2012-304356
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title>Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts</title><author><name sortKey="Vasen, Hans F A" sort="Vasen, Hans F A" uniqKey="Vasen H" first="Hans F A" last="Vasen">Hans F A. Vasen</name><affiliation><mods:affiliation>Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Blanco, Ignacio" sort="Blanco, Ignacio" uniqKey="Blanco I" first="Ignacio" last="Blanco">Ignacio Blanco</name><affiliation><mods:affiliation>Hereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Aktan Collan, Katja" sort="Aktan Collan, Katja" uniqKey="Aktan Collan K" first="Katja" last="Aktan-Collan">Katja Aktan-Collan</name><affiliation><mods:affiliation>Department of Medical Genetics Haartman Institute Biomedicum, University of Helsinki, Helsinki, Finland</mods:affiliation></affiliation></author><author><name sortKey="Gopie, Jessica P" sort="Gopie, Jessica P" uniqKey="Gopie J" first="Jessica P" last="Gopie">Jessica P. Gopie</name><affiliation><mods:affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Alonso, Angel" sort="Alonso, Angel" uniqKey="Alonso A" first="Angel" last="Alonso">Angel Alonso</name><affiliation><mods:affiliation>Department of Medical Genetics, Complejo Hospitalario de Navarre, Pamplona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Aretz, Stefan" sort="Aretz, Stefan" uniqKey="Aretz S" first="Stefan" last="Aretz">Stefan Aretz</name><affiliation><mods:affiliation>Institute of Human Genetics, University Hospital, Bonn, Germany</mods:affiliation></affiliation></author><author><name sortKey="Bernstein, Inge" sort="Bernstein, Inge" uniqKey="Bernstein I" first="Inge" last="Bernstein">Inge Bernstein</name><affiliation><mods:affiliation>The Danish HNPCC-Register, Department of Gastroenterology and Clinical Research Center, Copenhagen University Hospital, Hvidovre, Denmark</mods:affiliation></affiliation></author><author><name sortKey="Bertario, Lucio" sort="Bertario, Lucio" uniqKey="Bertario L" first="Lucio" last="Bertario">Lucio Bertario</name><affiliation><mods:affiliation>Department of Surgery, Hospital Tumori, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Burn, John" sort="Burn, John" uniqKey="Burn J" first="John" last="Burn">John Burn</name><affiliation><mods:affiliation>Institute of Human Genetics, Newcastle upon Tyne, UK</mods:affiliation></affiliation></author><author><name sortKey="Capella, Gabriel" sort="Capella, Gabriel" uniqKey="Capella G" first="Gabriel" last="Capella">Gabriel Capella</name><affiliation><mods:affiliation>Hereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Colas, Chrystelle" sort="Colas, Chrystelle" uniqKey="Colas C" first="Chrystelle" last="Colas">Chrystelle Colas</name><affiliation><mods:affiliation>Department of Genetics, Hospital Pitié-Salpêtrière AP.HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><affiliation><mods:affiliation>Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany</mods:affiliation></affiliation></author><author><name sortKey="Frayling, Ian M" sort="Frayling, Ian M" uniqKey="Frayling I" first="Ian M" last="Frayling">Ian M. Frayling</name><affiliation><mods:affiliation>Institute of Medical Genetics, Cardiff University and Universitiy Hospital of Wales, Cardiff, UK</mods:affiliation></affiliation></author><author><name sortKey="Genuardi, Maurizio" sort="Genuardi, Maurizio" uniqKey="Genuardi M" first="Maurizio" last="Genuardi">Maurizio Genuardi</name><affiliation><mods:affiliation>Department of Clinical Pathophysiology, University of Florence, and Tuscan Tumor Institute, Florence, Italy</mods:affiliation></affiliation></author><author><name sortKey="Heinimann, Karl" sort="Heinimann, Karl" uniqKey="Heinimann K" first="Karl" last="Heinimann">Karl Heinimann</name><affiliation><mods:affiliation>Division of Medical Genetics and Department of Biomedicine, University of Children's Hospital, Basel, Switzerland</mods:affiliation></affiliation></author><author><name sortKey="Hes, Frederik J" sort="Hes, Frederik J" uniqKey="Hes F" first="Frederik J" last="Hes">Frederik J. Hes</name><affiliation><mods:affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Hodgson, Shirley V" sort="Hodgson, Shirley V" uniqKey="Hodgson S" first="Shirley V" last="Hodgson">Shirley V. Hodgson</name><affiliation><mods:affiliation>Department of Clinical Genetics, St George's University of London Hospital, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Karagiannis, John A" sort="Karagiannis, John A" uniqKey="Karagiannis J" first="John A" last="Karagiannis">John A. Karagiannis</name><affiliation><mods:affiliation>Department of Gastroenterology, Konstantopoulio University Hospital, Athens, Greece</mods:affiliation></affiliation></author><author><name sortKey="Lalloo, Fiona" sort="Lalloo, Fiona" uniqKey="Lalloo F" first="Fiona" last="Lalloo">Fiona Lalloo</name><affiliation><mods:affiliation>Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Scientist Centre, Manchester, UK</mods:affiliation></affiliation></author><author><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name><affiliation><mods:affiliation>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Mecklin, Jukka Pekka" sort="Mecklin, Jukka Pekka" uniqKey="Mecklin J" first="Jukka-Pekka" last="Mecklin">Jukka-Pekka Mecklin</name><affiliation><mods:affiliation>Department of Surgery, Jyvaskyla Central Hospital, Jyvaskyla & Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland</mods:affiliation></affiliation></author><author><name sortKey="M Ller, Pal" sort="M Ller, Pal" uniqKey="M Ller P" first="Pal" last="M Ller">Pal M Ller</name><affiliation><mods:affiliation>Department of Medical Genetics, The Norwegian Radium Hospital University Hospital, Oslo, Norway</mods:affiliation></affiliation></author><author><name sortKey="Myrhoj, Torben" sort="Myrhoj, Torben" uniqKey="Myrhoj T" first="Torben" last="Myrhoj">Torben Myrhoj</name><affiliation><mods:affiliation>The Danish HNPCC-Register, Department of Gastroenterology and Clinical Research Center, Copenhagen University Hospital, Hvidovre, Denmark</mods:affiliation></affiliation></author><author><name sortKey="Nagengast, Fokko M" sort="Nagengast, Fokko M" uniqKey="Nagengast F" first="Fokko M" last="Nagengast">Fokko M. Nagengast</name><affiliation><mods:affiliation>Department of Gastroenterology, University Medical Centre Radboud, Nijmegen, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Parc, Yann" sort="Parc, Yann" uniqKey="Parc Y" first="Yann" last="Parc">Yann Parc</name><affiliation><mods:affiliation>Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Ponz De Leon, Maurizio" sort="Ponz De Leon, Maurizio" uniqKey="Ponz De Leon M" first="Maurizio" last="Ponz De Leon">Maurizio Ponz De Leon</name><affiliation><mods:affiliation>Department of Internal Medicine, Universtiy Hospital, Modena, Italy</mods:affiliation></affiliation></author><author><name sortKey="Renkonen Sinisalo, Laura" sort="Renkonen Sinisalo, Laura" uniqKey="Renkonen Sinisalo L" first="Laura" last="Renkonen-Sinisalo">Laura Renkonen-Sinisalo</name><affiliation><mods:affiliation>Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland</mods:affiliation></affiliation></author><author><name sortKey="Sampson, Julian R" sort="Sampson, Julian R" uniqKey="Sampson J" first="Julian R" last="Sampson">Julian R. Sampson</name><affiliation><mods:affiliation>Institute of Medical Genetics, Cardiff University and Universitiy Hospital of Wales, Cardiff, UK</mods:affiliation></affiliation></author><author><name sortKey="Stormorken, Astrid" sort="Stormorken, Astrid" uniqKey="Stormorken A" first="Astrid" last="Stormorken">Astrid Stormorken</name><affiliation><mods:affiliation>Department of Medical Genetics, The Norwegian Radium Hospital University Hospital, Oslo, Norway</mods:affiliation></affiliation></author><author><name sortKey="Sijmons, Rolf H" sort="Sijmons, Rolf H" uniqKey="Sijmons R" first="Rolf H" last="Sijmons">Rolf H. Sijmons</name><affiliation><mods:affiliation>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Tejpar, Sabine" sort="Tejpar, Sabine" uniqKey="Tejpar S" first="Sabine" last="Tejpar">Sabine Tejpar</name><affiliation><mods:affiliation>Digestive Oncology Unit, Department of Internal Medicine, University Hospital Gasthuisberg, Leuven, Belgium.</mods:affiliation></affiliation></author><author><name sortKey="Thomas, Huw J W" sort="Thomas, Huw J W" uniqKey="Thomas H" first="Huw J W" last="Thomas">Huw J W. Thomas</name><affiliation><mods:affiliation>Family Cancer Clinics, St Mark's Hospital, CRUK Cancer Centre, Imperial College London, Harrow, UK</mods:affiliation></affiliation></author><author><name sortKey="Rahner, Nils" sort="Rahner, Nils" uniqKey="Rahner N" first="Nils" last="Rahner">Nils Rahner</name><affiliation><mods:affiliation>Medical Faculty, Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany</mods:affiliation></affiliation></author><author><name sortKey="Wijnen, Juul T" sort="Wijnen, Juul T" uniqKey="Wijnen J" first="Juul T" last="Wijnen">Juul T. Wijnen</name><affiliation><mods:affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="J Rvinen, Heikki Juhani" sort="J Rvinen, Heikki Juhani" uniqKey="J Rvinen H" first="Heikki Juhani" last="J Rvinen">Heikki Juhani J Rvinen</name><affiliation><mods:affiliation>Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland</mods:affiliation></affiliation></author><author><name sortKey="Moslein, Gabriela" sort="Moslein, Gabriela" uniqKey="Moslein G" first="Gabriela" last="Möslein">Gabriela Möslein</name><affiliation><mods:affiliation>Department of Surgery, HELIOS St Josefs Hospital Bochum-Linden (Helios), Bochum, Germany</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:192D94B661BA14990CC11BA4F7D2E3D952EA3C39</idno><date when="2013" year="2013">2013</date><idno type="doi">10.1136/gutjnl-2012-304356</idno><idno type="url">https://api.istex.fr/document/192D94B661BA14990CC11BA4F7D2E3D952EA3C39/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000E02</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts</title><author><name sortKey="Vasen, Hans F A" sort="Vasen, Hans F A" uniqKey="Vasen H" first="Hans F A" last="Vasen">Hans F A. Vasen</name><affiliation><mods:affiliation>Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Blanco, Ignacio" sort="Blanco, Ignacio" uniqKey="Blanco I" first="Ignacio" last="Blanco">Ignacio Blanco</name><affiliation><mods:affiliation>Hereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Aktan Collan, Katja" sort="Aktan Collan, Katja" uniqKey="Aktan Collan K" first="Katja" last="Aktan-Collan">Katja Aktan-Collan</name><affiliation><mods:affiliation>Department of Medical Genetics Haartman Institute Biomedicum, University of Helsinki, Helsinki, Finland</mods:affiliation></affiliation></author><author><name sortKey="Gopie, Jessica P" sort="Gopie, Jessica P" uniqKey="Gopie J" first="Jessica P" last="Gopie">Jessica P. Gopie</name><affiliation><mods:affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Alonso, Angel" sort="Alonso, Angel" uniqKey="Alonso A" first="Angel" last="Alonso">Angel Alonso</name><affiliation><mods:affiliation>Department of Medical Genetics, Complejo Hospitalario de Navarre, Pamplona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Aretz, Stefan" sort="Aretz, Stefan" uniqKey="Aretz S" first="Stefan" last="Aretz">Stefan Aretz</name><affiliation><mods:affiliation>Institute of Human Genetics, University Hospital, Bonn, Germany</mods:affiliation></affiliation></author><author><name sortKey="Bernstein, Inge" sort="Bernstein, Inge" uniqKey="Bernstein I" first="Inge" last="Bernstein">Inge Bernstein</name><affiliation><mods:affiliation>The Danish HNPCC-Register, Department of Gastroenterology and Clinical Research Center, Copenhagen University Hospital, Hvidovre, Denmark</mods:affiliation></affiliation></author><author><name sortKey="Bertario, Lucio" sort="Bertario, Lucio" uniqKey="Bertario L" first="Lucio" last="Bertario">Lucio Bertario</name><affiliation><mods:affiliation>Department of Surgery, Hospital Tumori, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Burn, John" sort="Burn, John" uniqKey="Burn J" first="John" last="Burn">John Burn</name><affiliation><mods:affiliation>Institute of Human Genetics, Newcastle upon Tyne, UK</mods:affiliation></affiliation></author><author><name sortKey="Capella, Gabriel" sort="Capella, Gabriel" uniqKey="Capella G" first="Gabriel" last="Capella">Gabriel Capella</name><affiliation><mods:affiliation>Hereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Colas, Chrystelle" sort="Colas, Chrystelle" uniqKey="Colas C" first="Chrystelle" last="Colas">Chrystelle Colas</name><affiliation><mods:affiliation>Department of Genetics, Hospital Pitié-Salpêtrière AP.HP, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><affiliation><mods:affiliation>Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany</mods:affiliation></affiliation></author><author><name sortKey="Frayling, Ian M" sort="Frayling, Ian M" uniqKey="Frayling I" first="Ian M" last="Frayling">Ian M. Frayling</name><affiliation><mods:affiliation>Institute of Medical Genetics, Cardiff University and Universitiy Hospital of Wales, Cardiff, UK</mods:affiliation></affiliation></author><author><name sortKey="Genuardi, Maurizio" sort="Genuardi, Maurizio" uniqKey="Genuardi M" first="Maurizio" last="Genuardi">Maurizio Genuardi</name><affiliation><mods:affiliation>Department of Clinical Pathophysiology, University of Florence, and Tuscan Tumor Institute, Florence, Italy</mods:affiliation></affiliation></author><author><name sortKey="Heinimann, Karl" sort="Heinimann, Karl" uniqKey="Heinimann K" first="Karl" last="Heinimann">Karl Heinimann</name><affiliation><mods:affiliation>Division of Medical Genetics and Department of Biomedicine, University of Children's Hospital, Basel, Switzerland</mods:affiliation></affiliation></author><author><name sortKey="Hes, Frederik J" sort="Hes, Frederik J" uniqKey="Hes F" first="Frederik J" last="Hes">Frederik J. Hes</name><affiliation><mods:affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Hodgson, Shirley V" sort="Hodgson, Shirley V" uniqKey="Hodgson S" first="Shirley V" last="Hodgson">Shirley V. Hodgson</name><affiliation><mods:affiliation>Department of Clinical Genetics, St George's University of London Hospital, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Karagiannis, John A" sort="Karagiannis, John A" uniqKey="Karagiannis J" first="John A" last="Karagiannis">John A. Karagiannis</name><affiliation><mods:affiliation>Department of Gastroenterology, Konstantopoulio University Hospital, Athens, Greece</mods:affiliation></affiliation></author><author><name sortKey="Lalloo, Fiona" sort="Lalloo, Fiona" uniqKey="Lalloo F" first="Fiona" last="Lalloo">Fiona Lalloo</name><affiliation><mods:affiliation>Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Scientist Centre, Manchester, UK</mods:affiliation></affiliation></author><author><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name><affiliation><mods:affiliation>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Mecklin, Jukka Pekka" sort="Mecklin, Jukka Pekka" uniqKey="Mecklin J" first="Jukka-Pekka" last="Mecklin">Jukka-Pekka Mecklin</name><affiliation><mods:affiliation>Department of Surgery, Jyvaskyla Central Hospital, Jyvaskyla & Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland</mods:affiliation></affiliation></author><author><name sortKey="M Ller, Pal" sort="M Ller, Pal" uniqKey="M Ller P" first="Pal" last="M Ller">Pal M Ller</name><affiliation><mods:affiliation>Department of Medical Genetics, The Norwegian Radium Hospital University Hospital, Oslo, Norway</mods:affiliation></affiliation></author><author><name sortKey="Myrhoj, Torben" sort="Myrhoj, Torben" uniqKey="Myrhoj T" first="Torben" last="Myrhoj">Torben Myrhoj</name><affiliation><mods:affiliation>The Danish HNPCC-Register, Department of Gastroenterology and Clinical Research Center, Copenhagen University Hospital, Hvidovre, Denmark</mods:affiliation></affiliation></author><author><name sortKey="Nagengast, Fokko M" sort="Nagengast, Fokko M" uniqKey="Nagengast F" first="Fokko M" last="Nagengast">Fokko M. Nagengast</name><affiliation><mods:affiliation>Department of Gastroenterology, University Medical Centre Radboud, Nijmegen, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Parc, Yann" sort="Parc, Yann" uniqKey="Parc Y" first="Yann" last="Parc">Yann Parc</name><affiliation><mods:affiliation>Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Ponz De Leon, Maurizio" sort="Ponz De Leon, Maurizio" uniqKey="Ponz De Leon M" first="Maurizio" last="Ponz De Leon">Maurizio Ponz De Leon</name><affiliation><mods:affiliation>Department of Internal Medicine, Universtiy Hospital, Modena, Italy</mods:affiliation></affiliation></author><author><name sortKey="Renkonen Sinisalo, Laura" sort="Renkonen Sinisalo, Laura" uniqKey="Renkonen Sinisalo L" first="Laura" last="Renkonen-Sinisalo">Laura Renkonen-Sinisalo</name><affiliation><mods:affiliation>Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland</mods:affiliation></affiliation></author><author><name sortKey="Sampson, Julian R" sort="Sampson, Julian R" uniqKey="Sampson J" first="Julian R" last="Sampson">Julian R. Sampson</name><affiliation><mods:affiliation>Institute of Medical Genetics, Cardiff University and Universitiy Hospital of Wales, Cardiff, UK</mods:affiliation></affiliation></author><author><name sortKey="Stormorken, Astrid" sort="Stormorken, Astrid" uniqKey="Stormorken A" first="Astrid" last="Stormorken">Astrid Stormorken</name><affiliation><mods:affiliation>Department of Medical Genetics, The Norwegian Radium Hospital University Hospital, Oslo, Norway</mods:affiliation></affiliation></author><author><name sortKey="Sijmons, Rolf H" sort="Sijmons, Rolf H" uniqKey="Sijmons R" first="Rolf H" last="Sijmons">Rolf H. Sijmons</name><affiliation><mods:affiliation>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Tejpar, Sabine" sort="Tejpar, Sabine" uniqKey="Tejpar S" first="Sabine" last="Tejpar">Sabine Tejpar</name><affiliation><mods:affiliation>Digestive Oncology Unit, Department of Internal Medicine, University Hospital Gasthuisberg, Leuven, Belgium.</mods:affiliation></affiliation></author><author><name sortKey="Thomas, Huw J W" sort="Thomas, Huw J W" uniqKey="Thomas H" first="Huw J W" last="Thomas">Huw J W. Thomas</name><affiliation><mods:affiliation>Family Cancer Clinics, St Mark's Hospital, CRUK Cancer Centre, Imperial College London, Harrow, UK</mods:affiliation></affiliation></author><author><name sortKey="Rahner, Nils" sort="Rahner, Nils" uniqKey="Rahner N" first="Nils" last="Rahner">Nils Rahner</name><affiliation><mods:affiliation>Medical Faculty, Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany</mods:affiliation></affiliation></author><author><name sortKey="Wijnen, Juul T" sort="Wijnen, Juul T" uniqKey="Wijnen J" first="Juul T" last="Wijnen">Juul T. Wijnen</name><affiliation><mods:affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="J Rvinen, Heikki Juhani" sort="J Rvinen, Heikki Juhani" uniqKey="J Rvinen H" first="Heikki Juhani" last="J Rvinen">Heikki Juhani J Rvinen</name><affiliation><mods:affiliation>Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland</mods:affiliation></affiliation></author><author><name sortKey="Moslein, Gabriela" sort="Moslein, Gabriela" uniqKey="Moslein G" first="Gabriela" last="Möslein">Gabriela Möslein</name><affiliation><mods:affiliation>Department of Surgery, HELIOS St Josefs Hospital Bochum-Linden (Helios), Bochum, Germany</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Gut</title><title level="j" type="abbrev">Gut</title><idno type="ISSN">0017-5749</idno><idno type="eISSN">1468-3288</idno><imprint><publisher>BMJ Publishing Group Ltd and British Society of Gastroenterology</publisher><date type="published" when="2013-06">2013-06</date><biblScope unit="volume">62</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="812">812</biblScope></imprint><idno type="ISSN">0017-5749</idno></series><idno type="istex">192D94B661BA14990CC11BA4F7D2E3D952EA3C39</idno><idno type="DOI">10.1136/gutjnl-2012-304356</idno><idno type="href">gutjnl-62-812.pdf</idno><idno type="ArticleID">gutjnl-2012-304356</idno><idno type="PMID">23408351</idno><idno type="local">gutjnl;62/6/812</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0017-5749</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="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.</div></front></TEI><istex><corpusName>bmj</corpusName><author><json:item><name>Hans F A Vasen</name><affiliations><json:string>Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands</json:string></affiliations></json:item><json:item><name>Ignacio Blanco</name><affiliations><json:string>Hereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Spain</json:string></affiliations></json:item><json:item><name>Katja Aktan-Collan</name><affiliations><json:string>Department of Medical Genetics Haartman Institute Biomedicum, University of Helsinki, Helsinki, Finland</json:string></affiliations></json:item><json:item><name>Jessica P Gopie</name><affiliations><json:string>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</json:string></affiliations></json:item><json:item><name>Angel Alonso</name><affiliations><json:string>Department of Medical Genetics, Complejo Hospitalario de Navarre, Pamplona, Spain</json:string></affiliations></json:item><json:item><name>Stefan Aretz</name><affiliations><json:string>Institute of Human Genetics, University Hospital, Bonn, Germany</json:string></affiliations></json:item><json:item><name>Inge Bernstein</name><affiliations><json:string>The Danish HNPCC-Register, Department of Gastroenterology and Clinical Research Center, Copenhagen University Hospital, Hvidovre, Denmark</json:string></affiliations></json:item><json:item><name>Lucio Bertario</name><affiliations><json:string>Department of Surgery, Hospital Tumori, Milan, Italy</json:string></affiliations></json:item><json:item><name>John Burn</name><affiliations><json:string>Institute of Human Genetics, Newcastle upon Tyne, UK</json:string></affiliations></json:item><json:item><name>Gabriel Capella</name><affiliations><json:string>Hereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Spain</json:string></affiliations></json:item><json:item><name>Chrystelle Colas</name><affiliations><json:string>Department of Genetics, Hospital Pitié-Salpêtrière AP.HP, Paris, France</json:string></affiliations></json:item><json:item><name>Christoph Engel</name><affiliations><json:string>Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany</json:string></affiliations></json:item><json:item><name>Ian M Frayling</name><affiliations><json:string>Institute of Medical Genetics, Cardiff University and Universitiy Hospital of Wales, Cardiff, UK</json:string></affiliations></json:item><json:item><name>Maurizio Genuardi</name><affiliations><json:string>Department of Clinical Pathophysiology, University of Florence, and Tuscan Tumor Institute, Florence, Italy</json:string></affiliations></json:item><json:item><name>Karl Heinimann</name><affiliations><json:string>Division of Medical Genetics and Department of Biomedicine, University of Children's Hospital, Basel, Switzerland</json:string></affiliations></json:item><json:item><name>Frederik J Hes</name><affiliations><json:string>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</json:string></affiliations></json:item><json:item><name>Shirley V Hodgson</name><affiliations><json:string>Department of Clinical Genetics, St George's University of London Hospital, London, UK</json:string></affiliations></json:item><json:item><name>John A Karagiannis</name><affiliations><json:string>Department of Gastroenterology, Konstantopoulio University Hospital, Athens, Greece</json:string></affiliations></json:item><json:item><name>Fiona Lalloo</name><affiliations><json:string>Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Scientist Centre, Manchester, UK</json:string></affiliations></json:item><json:item><name>Annika Lindblom</name><affiliations><json:string>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Jukka-Pekka Mecklin</name><affiliations><json:string>Department of Surgery, Jyvaskyla Central Hospital, Jyvaskyla & Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland</json:string></affiliations></json:item><json:item><name>Pal Møller</name><affiliations><json:string>Department of Medical Genetics, The Norwegian Radium Hospital University Hospital, Oslo, Norway</json:string></affiliations></json:item><json:item><name>Torben Myrhoj</name><affiliations><json:string>The Danish HNPCC-Register, Department of Gastroenterology and Clinical Research Center, Copenhagen University Hospital, Hvidovre, Denmark</json:string></affiliations></json:item><json:item><name>Fokko M Nagengast</name><affiliations><json:string>Department of Gastroenterology, University Medical Centre Radboud, Nijmegen, The Netherlands</json:string></affiliations></json:item><json:item><name>Yann Parc</name><affiliations><json:string>Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France</json:string></affiliations></json:item><json:item><name>Maurizio Ponz de Leon</name><affiliations><json:string>Department of Internal Medicine, Universtiy Hospital, Modena, Italy</json:string></affiliations></json:item><json:item><name>Laura Renkonen-Sinisalo</name><affiliations><json:string>Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland</json:string></affiliations></json:item><json:item><name>Julian R Sampson</name><affiliations><json:string>Institute of Medical Genetics, Cardiff University and Universitiy Hospital of Wales, Cardiff, UK</json:string></affiliations></json:item><json:item><name>Astrid Stormorken</name><affiliations><json:string>Department of Medical Genetics, The Norwegian Radium Hospital University Hospital, Oslo, Norway</json:string></affiliations></json:item><json:item><name>Rolf H Sijmons</name><affiliations><json:string>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands</json:string></affiliations></json:item><json:item><name>Sabine Tejpar</name><affiliations><json:string>Digestive Oncology Unit, Department of Internal Medicine, University Hospital Gasthuisberg, Leuven, Belgium.</json:string></affiliations></json:item><json:item><name>Huw J W Thomas</name><affiliations><json:string>Family Cancer Clinics, St Mark's Hospital, CRUK Cancer Centre, Imperial College London, Harrow, UK</json:string></affiliations></json:item><json:item><name>Nils Rahner</name><affiliations><json:string>Medical Faculty, Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany</json:string></affiliations></json:item><json:item><name>Juul T Wijnen</name><affiliations><json:string>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</json:string></affiliations></json:item><json:item><name>Heikki Juhani Järvinen</name><affiliations><json:string>Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland</json:string></affiliations></json:item><json:item><name>Gabriela Möslein</name><affiliations><json:string>Department of Surgery, HELIOS St Josefs Hospital Bochum-Linden (Helios), Bochum, Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Open access</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Editor's choice</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Hnpcc Syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Gastrointestinal Cancer</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Colorectal Cancer Genes</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Colorectal Carcinoma</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Cancer Genetics</value></json:item></subject><articleId><json:string>gutjnl-2012-304356</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>research-article</json:string></originalGenre><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.</abstract><qualityIndicators><score>6.92</score><pdfVersion>1.3</pdfVersion><pdfPageSize>595.276 x 793.701 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>7</keywordCount><abstractCharCount>1037</abstractCharCount><pdfWordCount>10604</pdfWordCount><pdfCharCount>70422</pdfCharCount><pdfPageCount>12</pdfPageCount><abstractWordCount>160</abstractWordCount></qualityIndicators><title>Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts</title><pmid><json:string>23408351</json:string></pmid><genre><json:string>research-article</json:string></genre><host><volume>62</volume><publisherId><json:string>gut</json:string></publisherId><pages><first>812</first></pages><issn><json:string>0017-5749</json:string></issn><issue>6</issue><genre><json:string>journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1468-3288</json:string></eissn><title>Gut</title></host><publicationDate>2013</publicationDate><copyrightDate>2013</copyrightDate><doi><json:string>10.1136/gutjnl-2012-304356</json:string></doi><id>192D94B661BA14990CC11BA4F7D2E3D952EA3C39</id><score>0.25019962</score><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/192D94B661BA14990CC11BA4F7D2E3D952EA3C39/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/192D94B661BA14990CC11BA4F7D2E3D952EA3C39/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/192D94B661BA14990CC11BA4F7D2E3D952EA3C39/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a">Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>BMJ Publishing Group Ltd and British Society of Gastroenterology</publisher><availability status="free"><p>Open Access</p></availability><date>2013-02-13</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a">Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts</title><author xml:id="author-1"><persName><forename type="first">Hans F A</forename><surname>Vasen</surname></persName><affiliation>Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands</affiliation></author><author xml:id="author-2"><persName><forename type="first">Ignacio</forename><surname>Blanco</surname></persName><affiliation>Hereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Spain</affiliation></author><author xml:id="author-3"><persName><forename type="first">Katja</forename><surname>Aktan-Collan</surname></persName><affiliation>Department of Medical Genetics Haartman Institute Biomedicum, University of Helsinki, Helsinki, Finland</affiliation></author><author xml:id="author-4"><persName><forename type="first">Jessica P</forename><surname>Gopie</surname></persName><affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</affiliation></author><author xml:id="author-5"><persName><forename type="first">Angel</forename><surname>Alonso</surname></persName><affiliation>Department of Medical Genetics, Complejo Hospitalario de Navarre, Pamplona, Spain</affiliation></author><author xml:id="author-6"><persName><forename type="first">Stefan</forename><surname>Aretz</surname></persName><affiliation>Institute of Human Genetics, University Hospital, Bonn, Germany</affiliation></author><author xml:id="author-7"><persName><forename type="first">Inge</forename><surname>Bernstein</surname></persName><affiliation>The Danish HNPCC-Register, Department of Gastroenterology and Clinical Research Center, Copenhagen University Hospital, Hvidovre, Denmark</affiliation></author><author xml:id="author-8"><persName><forename type="first">Lucio</forename><surname>Bertario</surname></persName><affiliation>Department of Surgery, Hospital Tumori, Milan, Italy</affiliation></author><author xml:id="author-9"><persName><forename type="first">John</forename><surname>Burn</surname></persName><affiliation>Institute of Human Genetics, Newcastle upon Tyne, UK</affiliation></author><author xml:id="author-10"><persName><forename type="first">Gabriel</forename><surname>Capella</surname></persName><affiliation>Hereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Spain</affiliation></author><author xml:id="author-11"><persName><forename type="first">Chrystelle</forename><surname>Colas</surname></persName><affiliation>Department of Genetics, Hospital Pitié-Salpêtrière AP.HP, Paris, France</affiliation></author><author xml:id="author-12"><persName><forename type="first">Christoph</forename><surname>Engel</surname></persName><affiliation>Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany</affiliation></author><author xml:id="author-13"><persName><forename type="first">Ian M</forename><surname>Frayling</surname></persName><affiliation>Institute of Medical Genetics, Cardiff University and Universitiy Hospital of Wales, Cardiff, UK</affiliation></author><author xml:id="author-14"><persName><forename type="first">Maurizio</forename><surname>Genuardi</surname></persName><affiliation>Department of Clinical Pathophysiology, University of Florence, and Tuscan Tumor Institute, Florence, Italy</affiliation></author><author xml:id="author-15"><persName><forename type="first">Karl</forename><surname>Heinimann</surname></persName><affiliation>Division of Medical Genetics and Department of Biomedicine, University of Children's Hospital, Basel, Switzerland</affiliation></author><author xml:id="author-16"><persName><forename type="first">Frederik J</forename><surname>Hes</surname></persName><affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</affiliation></author><author xml:id="author-17"><persName><forename type="first">Shirley V</forename><surname>Hodgson</surname></persName><affiliation>Department of Clinical Genetics, St George's University of London Hospital, London, UK</affiliation></author><author xml:id="author-18"><persName><forename type="first">John A</forename><surname>Karagiannis</surname></persName><affiliation>Department of Gastroenterology, Konstantopoulio University Hospital, Athens, Greece</affiliation></author><author xml:id="author-19"><persName><forename type="first">Fiona</forename><surname>Lalloo</surname></persName><affiliation>Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Scientist Centre, Manchester, UK</affiliation></author><author xml:id="author-20"><persName><forename type="first">Annika</forename><surname>Lindblom</surname></persName><affiliation>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden</affiliation></author><author xml:id="author-21"><persName><forename type="first">Jukka-Pekka</forename><surname>Mecklin</surname></persName><affiliation>Department of Surgery, Jyvaskyla Central Hospital, Jyvaskyla & Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland</affiliation></author><author xml:id="author-22"><persName><forename type="first">Pal</forename><surname>Møller</surname></persName><affiliation>Department of Medical Genetics, The Norwegian Radium Hospital University Hospital, Oslo, Norway</affiliation></author><author xml:id="author-23"><persName><forename type="first">Torben</forename><surname>Myrhoj</surname></persName><affiliation>The Danish HNPCC-Register, Department of Gastroenterology and Clinical Research Center, Copenhagen University Hospital, Hvidovre, Denmark</affiliation></author><author xml:id="author-24"><persName><forename type="first">Fokko M</forename><surname>Nagengast</surname></persName><affiliation>Department of Gastroenterology, University Medical Centre Radboud, Nijmegen, The Netherlands</affiliation></author><author xml:id="author-25"><persName><forename type="first">Yann</forename><surname>Parc</surname></persName><affiliation>Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France</affiliation></author><author xml:id="author-26"><persName><forename type="first">Maurizio</forename><surname>Ponz de Leon</surname></persName><affiliation>Department of Internal Medicine, Universtiy Hospital, Modena, Italy</affiliation></author><author xml:id="author-27"><persName><forename type="first">Laura</forename><surname>Renkonen-Sinisalo</surname></persName><affiliation>Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland</affiliation></author><author xml:id="author-28"><persName><forename type="first">Julian R</forename><surname>Sampson</surname></persName><affiliation>Institute of Medical Genetics, Cardiff University and Universitiy Hospital of Wales, Cardiff, UK</affiliation></author><author xml:id="author-29"><persName><forename type="first">Astrid</forename><surname>Stormorken</surname></persName><affiliation>Department of Medical Genetics, The Norwegian Radium Hospital University Hospital, Oslo, Norway</affiliation></author><author xml:id="author-30"><persName><forename type="first">Rolf H</forename><surname>Sijmons</surname></persName><affiliation>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands</affiliation></author><author xml:id="author-31"><persName><forename type="first">Sabine</forename><surname>Tejpar</surname></persName><affiliation>Digestive Oncology Unit, Department of Internal Medicine, University Hospital Gasthuisberg, Leuven, Belgium.</affiliation></author><author xml:id="author-32"><persName><forename type="first">Huw J W</forename><surname>Thomas</surname></persName><affiliation>Family Cancer Clinics, St Mark's Hospital, CRUK Cancer Centre, Imperial College London, Harrow, UK</affiliation></author><author xml:id="author-33"><persName><forename type="first">Nils</forename><surname>Rahner</surname></persName><affiliation>Medical Faculty, Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany</affiliation></author><author xml:id="author-34"><persName><forename type="first">Juul T</forename><surname>Wijnen</surname></persName><affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</affiliation></author><author xml:id="author-35"><persName><forename type="first">Heikki Juhani</forename><surname>Järvinen</surname></persName><affiliation>Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland</affiliation></author><author xml:id="author-36"><persName><forename type="first">Gabriela</forename><surname>Möslein</surname></persName><affiliation>Department of Surgery, HELIOS St Josefs Hospital Bochum-Linden (Helios), Bochum, Germany</affiliation></author></analytic><monogr><title level="j">Gut</title><title level="j" type="abbrev">Gut</title><idno type="pISSN">0017-5749</idno><idno type="eISSN">1468-3288</idno><imprint><publisher>BMJ Publishing Group Ltd and British Society of Gastroenterology</publisher><date type="published" when="2013-06"></date><biblScope unit="volume">62</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="812">812</biblScope></imprint></monogr><idno type="istex">192D94B661BA14990CC11BA4F7D2E3D952EA3C39</idno><idno type="DOI">10.1136/gutjnl-2012-304356</idno><idno type="href">gutjnl-62-812.pdf</idno><idno type="ArticleID">gutjnl-2012-304356</idno><idno type="PMID">23408351</idno><idno type="local">gutjnl;62/6/812</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2013-02-13</date></creation><langUsage><language ident="en">en</language></langUsage><abstract><p>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.</p></abstract><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Open access</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Editor's choice</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>keywords</head><item><term>Hnpcc Syndrome</term></item><item><term>Gastrointestinal Cancer</term></item><item><term>Colorectal Cancer Genes</term></item><item><term>Colorectal Carcinoma</term></item><item><term>Cancer Genetics</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2013-02-13">Created</change><change 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abbrev-type="publisher">Gut</abbrev-journal-title><abbrev-journal-title>Gut</abbrev-journal-title><issn pub-type="ppub">0017-5749</issn><issn pub-type="epub">1468-3288</issn><publisher><publisher-name>BMJ Publishing Group Ltd and British Society of Gastroenterology</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">gutjnl-2012-304356</article-id><article-id pub-id-type="doi">10.1136/gutjnl-2012-304356</article-id><article-id pub-id-type="other">gutjnl;62/6/812</article-id><article-id pub-id-type="other">gutjnl;gutjnl-2012-304356</article-id><article-id pub-id-type="pmid">23408351</article-id><article-id pub-id-type="other">812</article-id><article-id pub-id-type="other">gutjnl-2012-304356</article-id><article-categories><subj-group subj-group-type="heading"><subject>Guidelines</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Open access</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Editor's choice</subject></subj-group></article-categories><title-group><article-title>Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Vasen</surname><given-names>Hans F A</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>Blanco</surname><given-names>Ignacio</given-names></name><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Aktan-Collan</surname><given-names>Katja</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Gopie</surname><given-names>Jessica P</given-names></name><xref ref-type="aff" rid="af4">4</xref></contrib><contrib contrib-type="author"><name><surname>Alonso</surname><given-names>Angel</given-names></name><xref ref-type="aff" rid="af5">5</xref></contrib><contrib contrib-type="author"><name><surname>Aretz</surname><given-names>Stefan</given-names></name><xref ref-type="aff" rid="af6">6</xref></contrib><contrib contrib-type="author"><name><surname>Bernstein</surname><given-names>Inge</given-names></name><xref ref-type="aff" rid="af7">7</xref></contrib><contrib contrib-type="author"><name><surname>Bertario</surname><given-names>Lucio</given-names></name><xref ref-type="aff" rid="af8">8</xref></contrib><contrib contrib-type="author"><name><surname>Burn</surname><given-names>John</given-names></name><xref ref-type="aff" rid="af9">9</xref></contrib><contrib contrib-type="author"><name><surname>Capella</surname><given-names>Gabriel</given-names></name><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Colas</surname><given-names>Chrystelle</given-names></name><xref ref-type="aff" rid="af10">10</xref></contrib><contrib contrib-type="author"><name><surname>Engel</surname><given-names>Christoph</given-names></name><xref ref-type="aff" rid="af11">11</xref></contrib><contrib contrib-type="author"><name><surname>Frayling</surname><given-names>Ian M</given-names></name><xref ref-type="aff" rid="af12">12</xref></contrib><contrib contrib-type="author"><name><surname>Genuardi</surname><given-names>Maurizio</given-names></name><xref ref-type="aff" rid="af13">13</xref></contrib><contrib contrib-type="author"><name><surname>Heinimann</surname><given-names>Karl</given-names></name><xref ref-type="aff" rid="af14">14</xref></contrib><contrib contrib-type="author"><name><surname>Hes</surname><given-names>Frederik J</given-names></name><xref ref-type="aff" rid="af4">4</xref></contrib><contrib contrib-type="author"><name><surname>Hodgson</surname><given-names>Shirley V</given-names></name><xref ref-type="aff" rid="af15">15</xref></contrib><contrib contrib-type="author"><name><surname>Karagiannis</surname><given-names>John A</given-names></name><xref ref-type="aff" rid="af16">16</xref></contrib><contrib contrib-type="author"><name><surname>Lalloo</surname><given-names>Fiona</given-names></name><xref ref-type="aff" rid="af17">17</xref></contrib><contrib contrib-type="author"><name><surname>Lindblom</surname><given-names>Annika</given-names></name><xref ref-type="aff" rid="af18">18</xref></contrib><contrib contrib-type="author"><name><surname>Mecklin</surname><given-names>Jukka-Pekka</given-names></name><xref ref-type="aff" rid="af19">19</xref></contrib><contrib contrib-type="author"><name><surname>Møller</surname><given-names>Pal</given-names></name><xref ref-type="aff" rid="af20">20</xref></contrib><contrib contrib-type="author"><name><surname>Myrhoj</surname><given-names>Torben</given-names></name><xref ref-type="aff" rid="af7">7</xref></contrib><contrib contrib-type="author"><name><surname>Nagengast</surname><given-names>Fokko M</given-names></name><xref ref-type="aff" rid="af21">21</xref></contrib><contrib contrib-type="author"><name><surname>Parc</surname><given-names>Yann</given-names></name><xref ref-type="aff" rid="af22">22</xref></contrib><contrib contrib-type="author"><name><surname>Ponz de Leon</surname><given-names>Maurizio</given-names></name><xref ref-type="aff" rid="af23">23</xref></contrib><contrib contrib-type="author"><name><surname>Renkonen-Sinisalo</surname><given-names>Laura</given-names></name><xref ref-type="aff" rid="af24">24</xref></contrib><contrib contrib-type="author"><name><surname>Sampson</surname><given-names>Julian R</given-names></name><xref ref-type="aff" rid="af12">12</xref></contrib><contrib contrib-type="author"><name><surname>Stormorken</surname><given-names>Astrid</given-names></name><xref ref-type="aff" rid="af20">20</xref></contrib><contrib contrib-type="author"><name><surname>Sijmons</surname><given-names>Rolf H</given-names></name><xref ref-type="aff" rid="af25">25</xref></contrib><contrib contrib-type="author"><name><surname>Tejpar</surname><given-names>Sabine</given-names></name><xref ref-type="aff" rid="af26">26</xref></contrib><contrib contrib-type="author"><name><surname>Thomas</surname><given-names>Huw J W</given-names></name><xref ref-type="aff" rid="af27">27</xref></contrib><contrib contrib-type="author"><name><surname>Rahner</surname><given-names>Nils</given-names></name><xref ref-type="aff" rid="af28">28</xref></contrib><contrib contrib-type="author"><name><surname>Wijnen</surname><given-names>Juul T</given-names></name><xref ref-type="aff" rid="af4">4</xref></contrib><contrib contrib-type="author"><name><surname>Järvinen</surname><given-names>Heikki Juhani</given-names></name><xref ref-type="aff" rid="af24">24</xref></contrib><contrib contrib-type="author"><name><surname>Möslein</surname><given-names>Gabriela</given-names></name><xref ref-type="aff" rid="af29">29</xref></contrib><contrib contrib-type="contributor"><on-behalf-of>(the Mallorca group)</on-behalf-of></contrib></contrib-group><aff id="af1"><label>1</label><addr-line>Department of Gastroenterology</addr-line>, <institution>Leiden University Medical Centre</institution>, <addr-line>Leiden</addr-line>, <country>The Netherlands</country></aff><aff id="af2"><label>2</label><addr-line>Hereditary Cancer Program</addr-line>, <institution>Catalan Institute of Oncology</institution>, <addr-line>Barcelona</addr-line>, <country>Spain</country></aff><aff id="af3"><label>3</label><addr-line>Department of Medical Genetics Haartman Institute Biomedicum</addr-line>, <institution>University of Helsinki</institution>, <addr-line>Helsinki</addr-line>, <country>Finland</country></aff><aff id="af4"><label>4</label><addr-line>Department of Clinical Genetics</addr-line>, <institution>Leiden University Medical Centre</institution>, <addr-line>Leiden</addr-line>, <country>The Netherlands</country></aff><aff id="af5"><label>5</label><addr-line>Department of Medical Genetics</addr-line>, <institution>Complejo Hospitalario de Navarre</institution>, <addr-line>Pamplona</addr-line>, <country>Spain</country></aff><aff id="af6"><label>6</label><institution>Institute of Human Genetics, University Hospital</institution>, <addr-line>Bonn</addr-line>, <country>Germany</country></aff><aff id="af7"><label>7</label>The Danish HNPCC-Register, Department of Gastroenterology and Clinical Research Center, Copenhagen University Hospital, Hvidovre, Denmark</aff><aff id="af8"><label>8</label><addr-line>Department of Surgery</addr-line>, <institution>Hospital Tumori</institution>, <addr-line>Milan</addr-line>, <country>Italy</country></aff><aff id="af9"><label>9</label><institution>Institute of Human Genetics</institution>, <addr-line>Newcastle upon Tyne</addr-line>, <country>UK</country></aff><aff id="af10"><label>10</label><addr-line>Department of Genetics</addr-line>, <institution>Hospital Pitié-Salpêtrière AP.HP</institution>, <addr-line>Paris</addr-line>, <country>France</country></aff><aff id="af11"><label>11</label><institution>Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig</institution>, <addr-line>Leipzig</addr-line>, <country>Germany</country></aff><aff id="af12"><label>12</label><institution>Institute of Medical Genetics, Cardiff University and Universitiy Hospital of Wales</institution>, <addr-line>Cardiff</addr-line>, <country>UK</country></aff><aff id="af13"><label>13</label><addr-line>Department of Clinical Pathophysiology</addr-line>, <institution>University of Florence, and Tuscan Tumor Institute</institution>, <addr-line>Florence</addr-line>, <country>Italy</country></aff><aff id="af14"><label>14</label><addr-line>Division of Medical Genetics and Department of Biomedicine</addr-line>, <institution>University of Children's Hospital</institution>, <addr-line>Basel</addr-line>, <country>Switzerland</country></aff><aff id="af15"><label>15</label><addr-line>Department of Clinical Genetics</addr-line>, <institution>St George's University of London Hospital</institution>, <addr-line>London</addr-line>, <country>UK</country></aff><aff id="af16"><label>16</label><addr-line>Department of Gastroenterology</addr-line>, <institution>Konstantopoulio University Hospital</institution>, <addr-line>Athens</addr-line>, <country>Greece</country></aff><aff id="af17"><label>17</label><addr-line>Genetic Medicine</addr-line>, <institution>Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Scientist Centre</institution>, <addr-line>Manchester</addr-line>, <country>UK</country></aff><aff id="af18"><label>18</label><addr-line>Department of Molecular Medicine and Surgery</addr-line>, <institution>Karolinska Institutet</institution>, <addr-line>Stockholm</addr-line>, <country>Sweden</country></aff><aff id="af19"><label>19</label><addr-line>Department of Surgery</addr-line>, <institution>Jyvaskyla Central Hospital, Jyvaskyla & Institute of Clinical Medicine, University of Eastern Finland</institution>, <addr-line>Kuopio</addr-line>, <country>Finland</country></aff><aff id="af20"><label>20</label><addr-line>Department of Medical Genetics</addr-line>, <institution>The Norwegian Radium Hospital University Hospital</institution>, <addr-line>Oslo</addr-line>, <country>Norway</country></aff><aff id="af21"><label>21</label><addr-line>Department of Gastroenterology</addr-line>, <institution>University Medical Centre Radboud</institution>, <addr-line>Nijmegen</addr-line>, <country>The Netherlands</country></aff><aff id="af22"><label>22</label><addr-line>Department of Digestive Surgery</addr-line>, <institution>Hospital Saint-Antoine, University Pierre et Marie</institution>, <addr-line>Paris</addr-line>, <country>France</country></aff><aff id="af23"><label>23</label><addr-line>Department of Internal Medicine</addr-line>, <institution>Universtiy Hospital</institution>, <addr-line>Modena</addr-line>, <country>Italy</country></aff><aff id="af24"><label>24</label><addr-line>Department of Surgery</addr-line>, <institution>Helsinki University Central Hospital</institution>, <addr-line>Helsinki</addr-line>, <country>Finland</country></aff><aff id="af25"><label>25</label><addr-line>Department of Genetics</addr-line>, <institution>University of Groningen, University Medical Centre Groningen</institution>, <addr-line>Groningen</addr-line>, <country>The Netherlands</country></aff><aff id="af26"><label>26</label><addr-line>Digestive Oncology Unit, Department of Internal Medicine</addr-line>, <institution>University Hospital Gasthuisberg</institution>, <addr-line>Leuven</addr-line>, <country>Belgium</country>.</aff><aff id="af27"><label>27</label><institution>Family Cancer Clinics, St Mark's Hospital, CRUK Cancer Centre, Imperial College London</institution>, <addr-line>Harrow</addr-line>, <country>UK</country></aff><aff id="af28"><label>28</label><addr-line>Medical Faculty</addr-line>, <institution>Institute of Human Genetics, University of Duesseldorf</institution>, <addr-line>Duesseldorf</addr-line>, <country>Germany</country></aff><aff id="af29"><label>29</label><addr-line>Department of Surgery</addr-line>, <institution>HELIOS St Josefs Hospital Bochum-Linden (Helios)</institution>, <addr-line>Bochum</addr-line>, <country>Germany</country></aff><author-notes><corresp><label>Correspondence to</label> Professor Dr Hans F A Vasen, Dutch Hereditary Cancer Registry & Department of Gastroenterology, Leiden University Medical Centre, Rijnsburgerweg 10, Leiden 2333 AA, The Netherlands; <email>hfavasen@stoet.nl</email></corresp></author-notes><pub-date pub-type="ppub"><month>6</month><year>2013</year></pub-date><pub-date pub-type="epub-original"><day>13</day><month>2</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>13</day><month>2</month><year>2013</year></pub-date><volume>62</volume><volume-id pub-id-type="other">62</volume-id><volume-id pub-id-type="other">62</volume-id><issue>6</issue><issue-id pub-id-type="other">gutjnl;62/6</issue-id><issue-id pub-id-type="other">6</issue-id><issue-id pub-id-type="other">62/6</issue-id><fpage>812</fpage><history><date date-type="received"><day>17</day><month>12</month><year>2012</year></date><date date-type="rev-recd"><day>15</day><month>1</month><year>2013</year></date><date date-type="accepted"><day>16</day><month>1</month><year>2013</year></date></history><permissions><copyright-statement>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions</copyright-statement><copyright-year>2013</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/"><p>This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc/3.0/">http://creativecommons.org/licenses/by-nc/3.0/</ext-link> and <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc/3.0/legalcode">http://creativecommons.org/licenses/by-nc/3.0/legalcode</ext-link></p></license></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="gutjnl-62-812.pdf"></self-uri><abstract><p>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: <italic>MLH1, MSH2, MSH6</italic> or <italic>PMS2</italic>. 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.</p></abstract><kwd-group><kwd>Hnpcc Syndrome</kwd><kwd>Gastrointestinal Cancer</kwd><kwd>Colorectal Cancer Genes</kwd><kwd>Colorectal Carcinoma</kwd><kwd>Cancer Genetics</kwd></kwd-group></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts</title></titleInfo><name type="personal"><namePart type="given">Hans F A</namePart><namePart type="family">Vasen</namePart><affiliation>Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ignacio</namePart><namePart type="family">Blanco</namePart><affiliation>Hereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Katja</namePart><namePart type="family">Aktan-Collan</namePart><affiliation>Department of Medical Genetics Haartman Institute Biomedicum, University of Helsinki, Helsinki, Finland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jessica P</namePart><namePart type="family">Gopie</namePart><affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Angel</namePart><namePart type="family">Alonso</namePart><affiliation>Department of Medical Genetics, Complejo Hospitalario de Navarre, Pamplona, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Stefan</namePart><namePart type="family">Aretz</namePart><affiliation>Institute of Human Genetics, University Hospital, Bonn, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Inge</namePart><namePart type="family">Bernstein</namePart><affiliation>The Danish HNPCC-Register, Department of Gastroenterology and Clinical Research Center, Copenhagen University Hospital, Hvidovre, Denmark</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lucio</namePart><namePart type="family">Bertario</namePart><affiliation>Department of Surgery, Hospital Tumori, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John</namePart><namePart type="family">Burn</namePart><affiliation>Institute of Human Genetics, Newcastle upon Tyne, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gabriel</namePart><namePart type="family">Capella</namePart><affiliation>Hereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chrystelle</namePart><namePart type="family">Colas</namePart><affiliation>Department of Genetics, Hospital Pitié-Salpêtrière AP.HP, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christoph</namePart><namePart type="family">Engel</namePart><affiliation>Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ian M</namePart><namePart type="family">Frayling</namePart><affiliation>Institute of Medical Genetics, Cardiff University and Universitiy Hospital of Wales, Cardiff, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maurizio</namePart><namePart type="family">Genuardi</namePart><affiliation>Department of Clinical Pathophysiology, University of Florence, and Tuscan Tumor Institute, Florence, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Karl</namePart><namePart type="family">Heinimann</namePart><affiliation>Division of Medical Genetics and Department of Biomedicine, University of Children's Hospital, Basel, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Frederik J</namePart><namePart type="family">Hes</namePart><affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Shirley V</namePart><namePart type="family">Hodgson</namePart><affiliation>Department of Clinical Genetics, St George's University of London Hospital, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John A</namePart><namePart type="family">Karagiannis</namePart><affiliation>Department of Gastroenterology, Konstantopoulio University Hospital, Athens, Greece</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Fiona</namePart><namePart type="family">Lalloo</namePart><affiliation>Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Scientist Centre, Manchester, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Annika</namePart><namePart type="family">Lindblom</namePart><affiliation>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jukka-Pekka</namePart><namePart type="family">Mecklin</namePart><affiliation>Department of Surgery, Jyvaskyla Central Hospital, Jyvaskyla & Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pal</namePart><namePart type="family">Møller</namePart><affiliation>Department of Medical Genetics, The Norwegian Radium Hospital University Hospital, Oslo, Norway</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Torben</namePart><namePart type="family">Myrhoj</namePart><affiliation>The Danish HNPCC-Register, Department of Gastroenterology and Clinical Research Center, Copenhagen University Hospital, Hvidovre, Denmark</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Fokko M</namePart><namePart type="family">Nagengast</namePart><affiliation>Department of Gastroenterology, University Medical Centre Radboud, Nijmegen, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yann</namePart><namePart type="family">Parc</namePart><affiliation>Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maurizio</namePart><namePart type="family">Ponz de Leon</namePart><affiliation>Department of Internal Medicine, Universtiy Hospital, Modena, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Laura</namePart><namePart type="family">Renkonen-Sinisalo</namePart><affiliation>Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Julian R</namePart><namePart type="family">Sampson</namePart><affiliation>Institute of Medical Genetics, Cardiff University and Universitiy Hospital of Wales, Cardiff, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Astrid</namePart><namePart type="family">Stormorken</namePart><affiliation>Department of Medical Genetics, The Norwegian Radium Hospital University Hospital, Oslo, Norway</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rolf H</namePart><namePart type="family">Sijmons</namePart><affiliation>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sabine</namePart><namePart type="family">Tejpar</namePart><affiliation>Digestive Oncology Unit, Department of Internal Medicine, University Hospital Gasthuisberg, Leuven, Belgium.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Huw J W</namePart><namePart type="family">Thomas</namePart><affiliation>Family Cancer Clinics, St Mark's Hospital, CRUK Cancer Centre, Imperial College London, Harrow, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nils</namePart><namePart type="family">Rahner</namePart><affiliation>Medical Faculty, Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Juul T</namePart><namePart type="family">Wijnen</namePart><affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Heikki Juhani</namePart><namePart type="family">Järvinen</namePart><affiliation>Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gabriela</namePart><namePart type="family">Möslein</namePart><affiliation>Department of Surgery, HELIOS St Josefs Hospital Bochum-Linden (Helios), Bochum, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article"></genre><subject><genre>hwp-journal-coll</genre><topic>Open access</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Editor's choice</topic></subject><originInfo><publisher>BMJ Publishing Group Ltd and British Society of Gastroenterology</publisher><dateIssued encoding="w3cdtf">2013-06</dateIssued><dateCreated encoding="w3cdtf">2013-02-13</dateCreated><copyrightDate encoding="w3cdtf">2013</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><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.</abstract><subject><genre>keywords</genre><topic>Hnpcc Syndrome</topic><topic>Gastrointestinal Cancer</topic><topic>Colorectal Cancer Genes</topic><topic>Colorectal Carcinoma</topic><topic>Cancer Genetics</topic></subject><relatedItem type="host"><titleInfo><title>Gut</title></titleInfo><titleInfo type="abbreviated"><title>Gut</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0017-5749</identifier><identifier type="eISSN">1468-3288</identifier><identifier type="PublisherID">gut</identifier><identifier type="PublisherID-hwp">gutjnl</identifier><identifier type="PublisherID-nlm-ta">Gut</identifier><part><date>2013</date><detail type="volume"><caption>vol.</caption><number>62</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>812</start></extent></part></relatedItem><identifier type="istex">192D94B661BA14990CC11BA4F7D2E3D952EA3C39</identifier><identifier type="DOI">10.1136/gutjnl-2012-304356</identifier><identifier type="href">gutjnl-62-812.pdf</identifier><identifier type="ArticleID">gutjnl-2012-304356</identifier><identifier type="PMID">23408351</identifier><identifier type="local">gutjnl;62/6/812</identifier><accessCondition type="use and reproduction" contentType="open-access">This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: http://creativecommons.org/licenses/by-nc/3.0/ and http://creativecommons.org/licenses/by-nc/3.0/legalcode</accessCondition><recordInfo><recordContentSource>BMJ</recordContentSource></recordInfo></mods></metadata><enrichments><json:item><type>multicat</type><uri>https://api.istex.fr/document/192D94B661BA14990CC11BA4F7D2E3D952EA3C39/enrichments/multicat</uri></json:item></enrichments><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
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