No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
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| Title: | No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study. |
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| Authors: | Dominguez-Valentin M; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379 Oslo, Norway.; European Hereditary Tumour Group (EHTG), c/o Lindsays, Caledonian Exchange 19A Canning Street, Edinburgh EH3 8HE, UK.; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, UK., Plazzer JP; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, UK.; Department of Medicine, Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, VIC 3050, Australia., Sampson JR; European Hereditary Tumour Group (EHTG), c/o Lindsays, Caledonian Exchange 19A Canning Street, Edinburgh EH3 8HE, UK.; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Heath Park, Cardiff CF14 4XN, UK., Engel C; European Hereditary Tumour Group (EHTG), c/o Lindsays, Caledonian Exchange 19A Canning Street, Edinburgh EH3 8HE, UK.; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107 Leipzig, Germany., Aretz S; Institute of Human Genetics, National Center for Hereditary Tumor Syndromes, Medical Faculty, University Hospital Bonn, University of Bonn, 53127 Bonn, Germany., Jenkins MA; Melbourne School of Population and Global Health, Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, VIC 3010, Australia., Sunde L; Department of Clinical Genetics, Aalborg University Hospital, 9000 Aalborg, Denmark.; Department of Biomedicine, Aarhus University, DK-8000 Aarhus, Denmark., Bernstein I; Department of Surgical Gastroenterology, Aalborg University Hospital, Aalborg University, 9100 Aalborg, Denmark.; Department of Clinical Medicine, Aalborg University Hospital, Aalborg University, 9100 Aalborg, Denmark., Capella G; European Hereditary Tumour Group (EHTG), c/o Lindsays, Caledonian Exchange 19A Canning Street, Edinburgh EH3 8HE, UK.; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, UK.; Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L, Hospitalet de Llobregat, 08908 Barcelona, Spain., Balaguer F; Gastroenterology Department, Hospital Clínic 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, 08036 Barcelona, Spain., Macrae F; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, UK.; Department of Medicine, Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, VIC 3050, Australia., Winship IM; Department of Genomic Medicine, Royal Melbourne Hospital, University of Melbourne, Melbourne, VIC 3052, Australia.; Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Melbourne, VIC 3052, Australia., Thomas H; Department of Surgery and Cancer, St Mark's Hospital, Imperial College London, London HA1 3UJ, UK., Evans DG; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Burn J; European Hereditary Tumour Group (EHTG), c/o Lindsays, Caledonian Exchange 19A Canning Street, Edinburgh EH3 8HE, UK.; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, UK.; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 7RU, UK., Greenblatt M; Larner College of Medicine, University of Vermont, Burlington, VT 05405, USA., de Vos Tot Nederveen Cappel WH; Department of Gastroenterology and Hepatology, Isala Clinics, 8015 Zwolle, The Netherlands., Sijmons RH; European Hereditary Tumour Group (EHTG), c/o Lindsays, Caledonian Exchange 19A Canning Street, Edinburgh EH3 8HE, UK.; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, UK.; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713GZ Groningen, The Netherlands., Nielsen M; Department of Clinical Genetics, Leids Universitair Medisch Centrum, 2300RC Leiden, The Netherlands., Bertario L; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, IRCCS, 20141 Milan, Italy., Bonanni B; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology, IRCCS, 20141 Milan, Italy., Tibiletti MG; Ospedale di Circolo ASST Settelaghi, Centro di Ricerca Tumori Eredo-Familiari, Università dell'Insubria, 21100 Varese, Italy., Cavestro GM; Gastroenterology and Gastrointestinal Endoscopy Unit, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 20132 Milan, Italy., Lindblom A; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden., Valle AD; Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Hospital Fuerzas Armadas, Montevideo 11600, Uruguay., Lopez-Kostner F; Programa Cáncer Heredo Familiar, Clínica Universidad de los Andes, Santiago 7550000, Chile., Alvarez K; Programa Cáncer Heredo Familiar, Clínica Universidad de los Andes, Santiago 7550000, Chile., Gluck N; Department of Gastroenterology, Sackler Faculty of Medicine, Tel-Aviv Sourasky Medical Center, Tel-Aviv University, Tel-Aviv 64259, Israel., Katz L; The Department of Gastroenterology, Gastro-Oncology Unit, High Risk and GI Cancer Prevention Clinic, Sheba Medical Center, Sheba 91120, Israel., Heinimann K; Medical Genetics, Institute for Medical Genetics and Pathology, University Hospital Basel, 4031 Basel, Switzerland., Vaccaro CA; Hereditary Cancer Program (PROCANHE), Hospital Italiano de Buenos Aires, Buenos Aires C1199ABB, Argentina.; Instituto de Medicina Traslacional e Ingenieria Biomedica (IMTIB), CONICET IU, Hospital Italiano de Buenos Aires, Buenos Aires C1199ABB, Argentina., Nakken S; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379 Oslo, Norway.; Centre for Cancer Cell Reprogramming (CanCell), Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, 4950 Oslo, Norway., Hovig E; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379 Oslo, Norway.; Department of Informatics, Centre for Bioinformatics, University of Oslo, 0316 Oslo, Norway., Green K; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Lalloo F; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Hill J; Department of Surgery, Central Manchester University Hospitals NHS, Foundation Trust, University of Manchester, London M13 9WL, UK., Vasen HFA; Department of Gastroenterology and Hepatology, Leiden University Medical Centre, 2333 Leiden, The Netherlands., Perne C; Institute of Human Genetics, National Center for Hereditary Tumor Syndromes, Medical Faculty, University Hospital Bonn, University of Bonn, 53127 Bonn, Germany., Büttner R; Institute of Pathology, University of Cologne, 50937 Cologne, Germany., Görgens H; Department of Surgery, Technische Universität Dresden, 01062 Dresden, Germany., Holinski-Feder E; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, UK.; Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, 80336 Munich, Germany.; Center of Medical Genetics, 80335 Munich, Germany., Morak M; Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, 80336 Munich, Germany.; Center of Medical Genetics, 80335 Munich, Germany., Holzapfel S; Institute of Human Genetics, National Center for Hereditary Tumor Syndromes, Medical Faculty, University Hospital Bonn, University of Bonn, 53127 Bonn, Germany., Hüneburg R; Department of Internal Medicine, University Hospital Bonn, 53127 Bonn, Germany., von Knebel Doeberitz M; Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Cooperation Unit Applied Tumour Biology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany., Loeffler M; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107 Leipzig, Germany., Rahner N; Medical School, Institute of Human Genetics, Heinrich-Heine-University, 40225 Dusseldorf, Germany., Weitz J; Department of Surgery, Technische Universität Dresden, 01062 Dresden, Germany., Steinke-Lange V; Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, 80336 Munich, Germany.; Center of Medical Genetics, 80335 Munich, Germany., Schmiegel W; Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, D-44789 Bochum, Germany., Vangala D; Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, D-44789 Bochum, Germany., Crosbie EJ; Gynaecological Oncology Research Group, Manchester University NHS Foundation Trust, Manchester, UK and Division of Cancer Sciences, University of Manchester, Manchester M20 4GJ, UK., Pineda M; Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L, Hospitalet de Llobregat, 08908 Barcelona, Spain., Navarro M; Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L, Hospitalet de Llobregat, 08908 Barcelona, Spain., Brunet J; Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L, Hospitalet de Llobregat, 08908 Barcelona, Spain., Moreira L; Gastroenterology Department, Hospital Clínic 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, 08036 Barcelona, Spain., Sánchez A; Gastroenterology Department, Hospital Clínic 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, 08036 Barcelona, Spain., Serra-Burriel M; Centre de Recerca en Economia i Salut (CRES-UPF), Universitat de Barcelona, 08002 Barcelona, Spain., Mints M; Division of Obstetrics and Gyneacology, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, Solna, 171 77 Stockholm, Sweden., Kariv R; Department of Gastroenterology, Sackler Faculty of Medicine, Tel-Aviv Sourasky Medical Center, Tel-Aviv University, Tel-Aviv 64259, Israel., Rosner G; Department of Gastroenterology, Sackler Faculty of Medicine, Tel-Aviv Sourasky Medical Center, Tel-Aviv University, Tel-Aviv 64259, Israel., Piñero TA; Hereditary Cancer Program (PROCANHE), Hospital Italiano de Buenos Aires, Buenos Aires C1199ABB, Argentina.; Instituto de Medicina Traslacional e Ingenieria Biomedica (IMTIB), CONICET IU, Hospital Italiano de Buenos Aires, Buenos Aires C1199ABB, Argentina., Pavicic WH; Hereditary Cancer Program (PROCANHE), Hospital Italiano de Buenos Aires, Buenos Aires C1199ABB, Argentina.; Instituto de Medicina Traslacional e Ingenieria Biomedica (IMTIB), CONICET IU, Hospital Italiano de Buenos Aires, Buenos Aires C1199ABB, Argentina., Kalfayan P; Hereditary Cancer Program (PROCANHE), Hospital Italiano de Buenos Aires, Buenos Aires C1199ABB, Argentina., Broeke SWT; Department of Clinical Genetics, Leids Universitair Medisch Centrum, 2300RC Leiden, The Netherlands., Mecklin JP; European Hereditary Tumour Group (EHTG), c/o Lindsays, Caledonian Exchange 19A Canning Street, Edinburgh EH3 8HE, UK.; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, UK.; Departments of Surgery, Central Finland Hospital Nova, University of Jyväskylä, 40620 Jyväskylä, Finland., Pylvänäinen K; Department of Education and Science, Sport and Health Sciences, Central Finland Hospital Nova, University of Jyväskylä, FI-40014 Jyväskylä, Finland., Renkonen-Sinisalo L; Applied Tumour Genomics Research Program, University of Helsinki, 00014 Helsinki, Finland.; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, 00280 Helsinki, Finland., Lepistö A; Applied Tumour Genomics Research Program, University of Helsinki, 00014 Helsinki, Finland.; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, 00280 Helsinki, Finland., Peltomäki P; Department of Medical and Clinical Genetics, University of Helsinki, 00014 Helsinki, Finland., Hopper JL; Melbourne School of Population and Global Health, Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, VIC 3010, Australia., Win AK; Melbourne School of Population and Global Health, Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, VIC 3010, Australia., Buchanan DD; Centre for Cancer Research, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, VIC 3010, Australia.; Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC 3010, Australia.; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, VIC 3010, Australia., Lindor NM; Department of Health Science Research, Mayo Clinic Arizona, Phoenix, AZ 85054, USA., Gallinger S; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, ON M5G 1X5, Canada., Marchand LL; Cancer Center, University of Hawaii, Honolulu, HI 96813, USA., Newcomb PA; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109-1024, USA., Figueiredo JC; Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Thibodeau SN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Therkildsen C; The Danish HNPCC Register, Clinical Research Centre, Copenhagen University Hospital, 2560 Hvidovre, Denmark., Hansen TVO; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, 2100 Copenhagen, Denmark., Lindberg L; Gastro Unit, Copenhagen University Hospital, 2560 Hvidovre, Denmark., Rødland EA; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379 Oslo, Norway., Neffa F; Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Hospital Fuerzas Armadas, Montevideo 11600, Uruguay., Esperon P; Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Hospital Fuerzas Armadas, Montevideo 11600, Uruguay., Tjandra D; Department of Medicine, Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, VIC 3050, Australia.; Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Melbourne, VIC 3052, Australia., Möslein G; European Hereditary Tumour Group (EHTG), c/o Lindsays, Caledonian Exchange 19A Canning Street, Edinburgh EH3 8HE, UK.; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, UK.; Surgical Center for Hereditary Tumors, Ev. Bethesda Khs Duisburg, University Witten-Herdecke, 58448 Herdecke, Germany., Seppälä TT; European Hereditary Tumour Group (EHTG), c/o Lindsays, Caledonian Exchange 19A Canning Street, Edinburgh EH3 8HE, UK.; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, UK.; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, 00280 Helsinki, Finland.; Department of Surgical Oncology, Johns Hopkins Hospital, Baltimore, MA 21287, USA., Møller P; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379 Oslo, Norway.; European Hereditary Tumour Group (EHTG), c/o Lindsays, Caledonian Exchange 19A Canning Street, Edinburgh EH3 8HE, UK.; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, UK. |
| Source: | Journal of clinical medicine [J Clin Med] 2021 Jun 28; Vol. 10 (13). Date of Electronic Publication: 2021 Jun 28. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2077-0383 |
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| DOI: | 10.3390/jcm10132856 |
