换一批Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
第一作者：
Mev,Dominguez-Valentin
第一单位：
Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. mev.dominguez.valentin@rr-research.no.
作者：
Mev,Dominguez-Valentin [1]
;
Julian R,Sampson [2]
;
Toni T,Seppälä [3]
;
Sanne W,Ten Broeke [4]
;
John-Paul,Plazzer [5]
;
Sigve,Nakken [6]
;
Christoph,Engel [7]
;
Stefan,Aretz [8]
;
Mark A,Jenkins [9]
;
Lone,Sunde [10]
;
Inge,Bernstein [11]
;
Gabriel,Capella [12]
;
Francesc,Balaguer [13]
;
Huw,Thomas [14]
;
D Gareth,Evans [15]
;
John,Burn [16]
;
Marc,Greenblatt [17]
;
Eivind,Hovig [18]
;
Wouter H,de Vos Tot Nederveen Cappel [19]
;
Rolf H,Sijmons [20]
;
Lucio,Bertario [21]
;
Maria Grazia,Tibiletti [22]
;
Giulia Martina,Cavestro [23]
;
Annika,Lindblom [24]
;
Adriana,Della Valle [25]
;
Francisco,Lopez-Köstner [26]
;
Nathan,Gluck [27]
;
Lior H,Katz [28]
;
Karl,Heinimann [29]
;
Carlos A,Vaccaro [30]
;
Reinhard,Büttner [31]
;
Heike,Görgens [32]
;
Elke,Holinski-Feder [33]
;
Monika,Morak [33]
;
Stefanie,Holzapfel [8]
;
Robert,Hüneburg [34]
;
Magnus von,Knebel Doeberitz [35]
;
Markus,Loeffler [7]
;
Nils,Rahner [36]
;
Hans K,Schackert [32]
;
Verena,Steinke-Lange [33]
;
Wolff,Schmiegel [37]
;
Deepak,Vangala [37]
;
Kirsi,Pylvänäinen [38]
;
Laura,Renkonen-Sinisalo [39]
;
John L,Hopper [9]
;
Aung Ko,Win [9]
;
Robert W,Haile [40]
;
Noralane M,Lindor [41]
;
Steven,Gallinger [42]
;
Loïc,Le Marchand [43]
;
Polly A,Newcomb [44]
;
Jane C,Figueiredo [45]
;
Stephen N,Thibodeau [46]
;
Karin,Wadt [47]
;
Christina,Therkildsen [48]
;
Henrik,Okkels [49]
;
Zohreh,Ketabi [50]
;
Leticia,Moreira [13]
;
Ariadna,Sánchez [13]
;
Miquel,Serra-Burriel [51]
;
Marta,Pineda [52]
;
Matilde,Navarro [52]
;
Ignacio,Blanco [52]
;
Kate,Green [53]
;
Fiona,Lalloo [53]
;
Emma J,Crosbie [54]
;
James,Hill [55]
;
Oliver G,Denton [56]
;
Ian M,Frayling [56]
;
Einar Andreas,Rødland [6]
;
Hans,Vasen [57]
;
Miriam,Mints [58]
;
Florencia,Neffa [25]
;
Patricia,Esperon [25]
;
Karin,Alvarez [26]
;
Revital,Kariv [27]
;
Guy,Rosner [27]
;
Tamara Alejandra,Pinero [30]
;
María Laura,Gonzalez [59]
;
Pablo,Kalfayan [59]
;
Douglas,Tjandra [60]
;
Ingrid M,Winship [61]
;
Finlay,Macrae [62]
;
Gabriela,Möslein [63]
;
Jukka-Pekka,Mecklin [64]
;
Maartje,Nielsen [4]
;
Pål,Møller [65]
作者单位：
Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. mev.dominguez.valentin@rr-research.no.
[1]
Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK. sampson@cardiff.ac.uk.
[2]
Department of Gastrointestinal Surgery, Helsinki University Central Hospital, Helsinki, Finland. toni.seppala@fimnet.fi.;Clinicum, University of Helsinki, Helsinki, Finland. toni.seppala@fimnet.fi.
[3]
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
[4]
Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.
[5]
Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
[6]
Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
[7]
Institute of Human Genetics, University of Bonn, Bonn, Germany.
[8]
Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.
[9]
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.;Department of Biomedicine, Aarhus University, Aarhus, Denmark.
[10]
Department of Surgical Gastroenterology, Aalborg University Hospital, Aalborg, Denmark.
[11]
Hereditary Cancer Program, Institut Catal. d'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
[12]
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.
[13]
St Mark's Hospital, Department of Surgery and Cancer, Imperial College London, London, UK.
[14]
Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.;Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK.
[15]
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
[16]
University of Vermont College of Medicine, Burlington, VT, USA.
[17]
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.
[18]
Department of Gastroenterology and Hepatology, Isala Clinics, Zwolle, The Netherlands.
[19]
Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
[20]
Unit of Hereditary Digestive Tract Tumors IRCCS Istituto Nazionale Tumori and Division of Cancer Prevention and Genetics, European Institute of Oncology, Milan, Italy.
[21]
Ospedale di Circolo ASST Settelaghi, Centro di Ricerca tumori eredo-familiari, Università dell'Insubria, Varese, Italy.
[22]
Gastroenterology and Gastrointestinal Endoscopy Unit, Vita-Salute San Raffaele University, San Raffaele Scientific Institute, Milan, Italy.
[23]
Department of Molecular Medicine and Surgery and Department of Clinical Genetics, Karolinska Institutet and University Hospital, Stockholm, Sweden.
[24]
Hospital Fuerzas Armadas, Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Montevideo, Uruguay.
[25]
Lab. Oncología y Genética Molecular, Unidad de coloproctología, Clínica Las Condes, Santiago, Chile.
[26]
Department of Gastroenterology, Tel Aviv Sourasky Medical Centre and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
[27]
High Risk and GI Cancer prevention Clinic, Gastro-Oncology Unit, The Department of Gastroenterology, Sheba Medical Center, Ramat Gan, Israel.
[28]
Institute for Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
[29]
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.
[30]
Institute of Pathology, University of Cologne, Cologne, Germany.
[31]
Department of Surgical Research, Technische Universität Dresden, Dresden, Germany.
[32]
Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.;Center of Medical Genetics, Munich, Germany.
[33]
Department of Internal Medicine, University Hospital Bonn, Bonn, Germany.
[34]
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.
[35]
Institute of Human Genetics, Medical School, Heinrich-Heine-University, Dusseldorf, Germany.
[36]
Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany.
[37]
Department of Education and Science, Central Finland Health Care District, Jyväskylä, Finland.
[38]
Department of Gastrointestinal Surgery, Helsinki University Central Hospital, Helsinki, Finland.;Applied Tumour Genomics Research Program, University of Helsinki, Helsinki, Finland.
[39]
Department of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University, Palo Alto, CA, USA.
[40]
Department of Health Science Research, Mayo Clinic Arizona, Phoenix, AZ, USA.
[41]
Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.
[42]
University of Hawaii Cancer Center, Honolulu, HI, USA.
[43]
Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
[44]
Cedars-Sinai Medical Center, Los Angeles, CA, USA.
[45]
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
[46]
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
[47]
The Danish HNPCC Register, Clinical Research Centre, Copenhagen University Hospital, Hvidovre, Denmark.
[48]
Department of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.
[49]
Department of Obstetrics and Gynaecology, Copenhagen University Hospital, Rigshospitalet, Denmark.
[50]
Universitat de Barcelona & Centre de Recerca en Economia i Salut (CRES-UPF), Barcelona, Spain.
[51]
Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
[52]
Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
[53]
Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester and St Mary's Hospital, Manchester, UK.
[54]
Department of Surgery, Central Manchester University Hospitals NHS Foundation Trust and University of Manchester, Manchester, UK.
[55]
Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK.
[56]
Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The Netherlands.
[57]
Department of Women's and Children's health, Division of Obstetrics and Gyneacology, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden.
[58]
Hereditary Cancer Program (PROCANHE), Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
[59]
Department of Medicine, Melbourne University, Melbourne, Australia.
[60]
Department of Medicine, Melbourne University, Melbourne, Australia.;Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Australia.
[61]
Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.;Department of Medicine, Melbourne University, Melbourne, Australia.
[62]
Surgical Center for Hereditary Tumors, HELIOS University Clinic Wuppertal, University of Witten-Hardecke, Wuppertal, Germany.
[63]
Departments of Surgery, University of Jyväskylä and Central Finland Central Hospital, Jyväskylä, Finland.
[64]
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.
[65]
医学主题词
成年人(Adult);老年人(Aged);结直肠肿瘤, 遗传性非息肉性(Colorectal Neoplasms, Hereditary Nonpolyposis);DNA错配修复(DNA Mismatch Repair);DNA结合蛋白质类(DNA-Binding Proteins);数据库, 遗传学(Databases, Genetic);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);男(雄)性(Male);中年人(Middle Aged);MutS同源蛋白2(MutS Homolog 2 Protein);突变(Mutation);外显率(Penetrance);前瞻性研究(Prospective Studies);危险性评估(Risk Assessment);性征(Sex Characteristics);存活率分析(Survival Analysis)
DOI
10.1038/s41436-019-0596-9
PMID
31337882
发布时间
2025-05-30
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Genetics in medicine
Genetics in medicine
15-25页
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