European guidelines from theEHTGandESCPfor Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

Autor: Seppälä TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez-Rodriguez R, Sánchez-Guillén L, Evans DG, Ryan N, Crosbie EJ, Dominguez-Valentin M, Burn J, Kloor M, Knebel Doeberitz MV, Duijnhoven FJBV, Quirke P, Sampson JR, Møller P, Möslein G, European Hereditary Tumour Group (EHTG) and European Society of Coloproctology

Publikováno v: BRITISH JOURNAL OF SURGERY
r-FISABIO. Repositorio Institucional de Producción Científica
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Background Lynch syndrome is the most common genetic predisposition for hereditary cancer but remains underdiagnosed. Large prospective observational studies have recently increased understanding of the effectiveness of colonoscopic surveillance and

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Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Autor: Dominguez-Valentin M; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. mev.dominguez.valentin@rr-research.no., Sampson JR; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK. sampson@cardiff.ac.uk., Seppälä TT; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, Helsinki, Finland. toni.seppala@fimnet.fi.; Clinicum, University of Helsinki, Helsinki, Finland. toni.seppala@fimnet.fi., Ten Broeke SW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Plazzer JP; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia., Nakken S; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Aretz S; Institute of Human Genetics, University of Bonn, Bonn, Germany., Jenkins MA; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia., Sunde L; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Bernstein I; Department of Surgical Gastroenterology, Aalborg University Hospital, Aalborg, Denmark., Capella G; Hereditary Cancer Program, Institut Catal. d'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain., Balaguer F; Gastroenterology Department, Hospital Clinic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain., Thomas H; St Mark's Hospital, Department of Surgery and Cancer, Imperial College London, London, UK., Evans DG; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.; Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK., Burn J; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Greenblatt M; University of Vermont College of Medicine, Burlington, VT, USA., Hovig E; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.; Institute of Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway., de Vos Tot Nederveen Cappel WH; Department of Gastroenterology and Hepatology, Isala Clinics, Zwolle, The Netherlands., Sijmons RH; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Bertario L; Unit of Hereditary Digestive Tract Tumors IRCCS Istituto Nazionale Tumori and Division of Cancer Prevention and Genetics, European Institute of Oncology, Milan, Italy., Tibiletti MG; Ospedale di Circolo ASST Settelaghi, Centro di Ricerca tumori eredo-familiari, Università dell'Insubria, Varese, Italy., Cavestro GM; Gastroenterology and Gastrointestinal Endoscopy Unit, Vita-Salute San Raffaele University, San Raffaele Scientific Institute, Milan, Italy., Lindblom A; Department of Molecular Medicine and Surgery and Department of Clinical Genetics, Karolinska Institutet and University Hospital, Stockholm, Sweden., Della Valle A; Hospital Fuerzas Armadas, Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Montevideo, Uruguay., Lopez-Köstner F; Lab. Oncología y Genética Molecular, Unidad de coloproctología, Clínica Las Condes, Santiago, Chile., Gluck N; Department of Gastroenterology, Tel Aviv Sourasky Medical Centre and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Katz LH; High Risk and GI Cancer prevention Clinic, Gastro-Oncology Unit, The Department of Gastroenterology, Sheba Medical Center, Ramat Gan, Israel., Heinimann K; Institute for Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Vaccaro CA; Hereditary Cancer Program (PROCANHE), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.; Instituto de Medicina Traslacional e Ingenieria Biomedica (IMTIB), CONICET IU, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina., Büttner R; Institute of Pathology, University of Cologne, Cologne, Germany., Görgens H; Department of Surgical Research, Technische Universität Dresden, Dresden, Germany., Holinski-Feder E; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; Center of Medical Genetics, Munich, Germany., Morak M; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; Center of Medical Genetics, Munich, Germany., Holzapfel S; Institute of Human Genetics, University of Bonn, Bonn, Germany., Hüneburg R; Department of Internal Medicine, University Hospital Bonn, Bonn, Germany., Knebel Doeberitz MV; Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.; Cooperation Unit Applied Tumour Biology, German Cancer Research Center (DKFZ), Heidelberg, Germany., Loeffler M; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Rahner N; Institute of Human Genetics, Medical School, Heinrich-Heine-University, Dusseldorf, Germany., Schackert HK; Department of Surgical Research, Technische Universität Dresden, Dresden, Germany., Steinke-Lange V; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; Center of Medical Genetics, Munich, Germany., Schmiegel W; Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany., Vangala D; Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany., Pylvänäinen K; Department of Education and Science, Central Finland Health Care District, Jyväskylä, Finland., Renkonen-Sinisalo L; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, Helsinki, Finland.; Applied Tumour Genomics Research Program, University of Helsinki, Helsinki, Finland., Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia., Win AK; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia., Haile RW; Department of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University, Palo Alto, CA, USA., Lindor NM; Department of Health Science Research, Mayo Clinic Arizona, Phoenix, AZ, USA., Gallinger S; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada., Le Marchand L; University of Hawaii Cancer Center, Honolulu, HI, USA., Newcomb PA; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA., Figueiredo JC; Cedars-Sinai Medical Center, Los Angeles, CA, USA., Thibodeau SN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Wadt K; Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark., Therkildsen C; The Danish HNPCC Register, Clinical Research Centre, Copenhagen University Hospital, Hvidovre, Denmark., Okkels H; Department of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark., Ketabi Z; Department of Obstetrics and Gynaecology, Copenhagen University Hospital, Rigshospitalet, Denmark., Moreira L; Gastroenterology Department, Hospital Clinic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain., Sánchez A; Gastroenterology Department, Hospital Clinic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain., Serra-Burriel M; Universitat de Barcelona & Centre de Recerca en Economia i Salut (CRES-UPF), Barcelona, Spain., Pineda M; Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain., Navarro M; Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain., Blanco I; Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain., Green K; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Lalloo F; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Crosbie EJ; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester and St Mary's Hospital, Manchester, UK., Hill J; Department of Surgery, Central Manchester University Hospitals NHS Foundation Trust and University of Manchester, Manchester, UK., Denton OG; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK., Frayling IM; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK., Rødland EA; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway., Vasen H; Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The Netherlands., Mints M; Department of Women's and Children's health, Division of Obstetrics and Gyneacology, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden., Neffa F; Hospital Fuerzas Armadas, Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Montevideo, Uruguay., Esperon P; Hospital Fuerzas Armadas, Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Montevideo, Uruguay., Alvarez K; Lab. Oncología y Genética Molecular, Unidad de coloproctología, Clínica Las Condes, Santiago, Chile., Kariv R; Department of Gastroenterology, Tel Aviv Sourasky Medical Centre and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Rosner G; Department of Gastroenterology, Tel Aviv Sourasky Medical Centre and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Pinero TA; Hereditary Cancer Program (PROCANHE), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.; Instituto de Medicina Traslacional e Ingenieria Biomedica (IMTIB), CONICET IU, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina., Gonzalez ML; Hereditary Cancer Program (PROCANHE), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina., Kalfayan P; Hereditary Cancer Program (PROCANHE), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina., Tjandra D; Department of Medicine, Melbourne University, Melbourne, Australia., Winship IM; Department of Medicine, Melbourne University, Melbourne, Australia.; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Australia., Macrae F; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.; Department of Medicine, Melbourne University, Melbourne, Australia., Möslein G; Surgical Center for Hereditary Tumors, HELIOS University Clinic Wuppertal, University of Witten-Hardecke, Wuppertal, Germany., Mecklin JP; Departments of Surgery, University of Jyväskylä and Central Finland Central Hospital, Jyväskylä, Finland., Nielsen M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Møller P; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.; Department of Medical Genetics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.; Centre for Cancer Cell Reprogamming, University of Oslo, Oslo, Norway.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Sep; Vol. 22 (9), pp. 1569.

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report.

Autor: Dominguez-Valentin M; 1Department of Tumor Biology, Institute of Cancer Research, Oslo University Hospital, Oslo, Norway., Seppälä TT; 2Department of Gastrointestinal Surgery, Helsinki University Central Hospital, Helsinki, Finland.; 3Clinicum, University of Helsinki, Helsinki, Finland., Sampson JR; 4Division of Cancer and Genetics, Institute of Medical Genetics, Cardiff University School of Medicine, Cardiff, UK., Macrae F; 5The Royal Melbourne Hospital, Melbourne, Australia.; 6University of Melbourne, Melbourne, Australia., Winship I; 5The Royal Melbourne Hospital, Melbourne, Australia.; 6University of Melbourne, Melbourne, Australia., Evans DG; 7University of Manchester & Manchester University Hospitals Foundation Trust, Manchester, UK., Scott RJ; University of Newcastle and the Hunter Medical Research Institute, Callaghan, Australia., Burn J; 9University of Newcastle, Newcastle upon Tyne, UK., Möslein G; 10University Witten-Herdecke, Wuppertal, Germany., Bernstein I; 11Department of Surgical Gastroenterology, Aalborg University Hospital, Aalborg, Denmark., Pylvänäinen K; 12Central Finland Central Hospital, Education and Research, Jyväskylä, Finland., Renkonen-Sinisalo L; 2Department of Gastrointestinal Surgery, Helsinki University Central Hospital, Helsinki, Finland.; 13Research Programs Unit, Genome-Scale Biology, University of Helsinki, Helsinki, Finland., Lepistö A; 2Department of Gastrointestinal Surgery, Helsinki University Central Hospital, Helsinki, Finland.; 13Research Programs Unit, Genome-Scale Biology, University of Helsinki, Helsinki, Finland., Lindblom A; 14Karolinska Institutet, Stockholm, Sweden., Plazzer JP; 5The Royal Melbourne Hospital, Melbourne, Australia., Tjandra D; 6University of Melbourne, Melbourne, Australia., Thomas H; 15St Mark's Hospital, Department of Surgery and Cancer, Imperial College London, London, UK., Green K; 7University of Manchester & Manchester University Hospitals Foundation Trust, Manchester, UK., Lalloo F; 7University of Manchester & Manchester University Hospitals Foundation Trust, Manchester, UK., Crosbie EJ; 16University of Manchester and St Mary's Hospital, Manchester, UK., Hill J; 7University of Manchester & Manchester University Hospitals Foundation Trust, Manchester, UK., Capella G; 17Hereditary Cancer Program, Catalan Institute of Oncology, Insititut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, L'Hospitalet de Llobregat, Barcelona, Spain.; 18Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Pineda M; 17Hereditary Cancer Program, Catalan Institute of Oncology, Insititut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, L'Hospitalet de Llobregat, Barcelona, Spain.; 18Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Navarro M; 17Hereditary Cancer Program, Catalan Institute of Oncology, Insititut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, L'Hospitalet de Llobregat, Barcelona, Spain.; 18Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Vidal JB; 17Hereditary Cancer Program, Catalan Institute of Oncology, Insititut d'Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, L'Hospitalet de Llobregat, Barcelona, Spain.; 18Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Rønlund K; 19Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark., Nielsen RT; 20Department of Surgery, Regional Hospital West Jutland, Egtved, Denmark., Yilmaz M; 21Department of Oncology, Aalborg University Hospital, Aalborg, Denmark., Elvang LL; 22Department of Pathology, Herlev Gentofte University Hospital, Herlev, Denmark., Katz L; 23High Risk and GI Cancer prevention Clinic, Gatro-Oncology Unit, The Department of Gastroenterology, Sheba Medical Center, Ramat Gan, Israel., Nielsen M; 24Leids Universitair Medisch Centrum, Leiden, Netherlands., Ten Broeke SW; 24Leids Universitair Medisch Centrum, Leiden, Netherlands., Nakken S; 1Department of Tumor Biology, Institute of Cancer Research, Oslo University Hospital, Oslo, Norway., Hovig E; 1Department of Tumor Biology, Institute of Cancer Research, Oslo University Hospital, Oslo, Norway.; 25Center for Bioinformatics, Department of Informatics, University of Oslo, Oslo, Norway., Sunde L; 26Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Kloor M; 27Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.; 28Cooperation Unit Applied Tumor Biology, German Cancer Research Center (DKFZ), Heidelberg, Germany., Knebel Doeberitz MV; 27Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.; 28Cooperation Unit Applied Tumor Biology, German Cancer Research Center (DKFZ), Heidelberg, Germany., Ahadova A; 27Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.; 28Cooperation Unit Applied Tumor Biology, German Cancer Research Center (DKFZ), Heidelberg, Germany., Lindor N; 29Department of Health Sciences Research, Mayo Clinic, Scottsdale, AZ USA., Steinke-Lange V; 30Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; 31MGZ- Medical Genetics Center, Munich, Germany., Holinski-Feder E; 30Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; 31MGZ- Medical Genetics Center, Munich, Germany., Mecklin JP; 32Department of Surgery, Central Finland Central Hospital, Jyväskylä, Finland.; 33Faculty of Sport and Health Sciences, University of Jyväskylä, Jyväskylä, Finland., Møller P; 1Department of Tumor Biology, Institute of Cancer Research, Oslo University Hospital, Oslo, Norway.

Publikováno v: Hereditary cancer in clinical practice [Hered Cancer Clin Pract] 2019 Oct 14; Vol. 17, pp. 28. Date of Electronic Publication: 2019 Oct 14 (Print Publication: 2019).

Comprehensive genetic counseling for families at risk for HNPCC: impact on distress and perceptions.

Autor: Keller M; Psychosocial Care Unit, University Hospital Heidelberg, D-69120 Heidelberg, Germany. monika_keller@med.uni-heidelberg.de, Jost R, Haunstetter CM, Kienle P, Knaebel HP, Gebert J, Sutter C, Knebel-Doeberitz Mv, Cremer F, Mazitschek U

Publikováno v: Genetic testing [Genet Test] 2002 Winter; Vol. 6 (4), pp. 291-302.