Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.

Autor: Dominguez-Valentin M; Department of Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway. mev.dominguez.valentin@rr-research.no., Crosbie EJ; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester and St Mary's Hospital, Manchester, UK. Emma.Crosbie@manchester.ac.uk.; Directorate of Gynaecology, Manchester University NHS Foundation Trust, Manchester, UK. Emma.Crosbie@manchester.ac.uk., 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.; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany., Macrae F; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.; Department of Medicine, Melbourne University, Melbourne, Australia., Winship I; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.; Department of Medicine, Melbourne University, Melbourne, Australia., Capella G; Hereditary Cancer Program, Institut Catal. d'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain., Thomas H; St Mark's Hospital, Department of Surgery and Cancer, Imperial College London, London, UK., Nakken S; Department of Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway.; Centre for Cancer Cell Reprogramming, Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway., Hovig E; Department of Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway.; Department of Informatics, University of Oslo, Oslo, Norway., Nielsen M; Leids Universitair Medisch Centrum, Leiden, Netherlands., Sijmons RH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Bertario L; IEO, European Institute of Oncology IRCCS, Milan, Italy.; Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy., Bonanni B; IEO, European Institute of Oncology IRCCS, 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., Mints M; Department of Women's and Children's health, Division of Obstetrics and Gyneacology, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden., Gluck N; Tel-Aviv Sourasky Medical Center, Research Center for Digestive Disorders and Liver Diseases, Tel-Aviv, Israel.; Department of Gastroenterology, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Katz L; High Risk and GI Cancer prevention Clinic, Gastro-Oncology Unit, The Department of Gastroenterology, Sheba Medical Center, Tel-Aviv, Israel., Heinimann K; Medical Genetics, 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 Ciencias Básicas y Medicina Experimental (ICBME)-Instituto Universitario (IU)-Hospital, Buenos Aires, Argentina., Green K; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Lalloo F; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Hill J; Department of Surgery, Manchester University Hospitals NHS Foundation Trust and University of Manchester, Manchester, UK., Schmiegel W; Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany., Vangala D; Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany., Perne C; Institute of Human Genetics, University of Bonn, Bonn, Germany.; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany., Strauß HG; Department of Gynaecology, University Clinics, Martin-Luther University, Halle-Wittenberg, Germany., Tecklenburg J; Institute of Human Genetics, Hannover Medical School, Hannover, Germany., Holinski-Feder E; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ Medical Genetics Center, Munich, Germany., Steinke-Lange V; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ Medical Genetics Center, Munich, Germany., Mecklin JP; Faculty of Sport and Health Sciences, University of Jyväskylä, Jyväskylä, Finland.; Department of Surgery, Central Finland Health Care District, Jyväskylä, Finland., Plazzer JP; The Royal Melbourne Hospital, Melbourne, Australia., 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., Vidal JB; Hereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain., Kariv R; Department of Gastroenterology, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Rosner G; Department of Gastroenterology, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Piñero TA; Instituto de Ciencias Básicas y Medicina Experimental (ICBME)-Instituto Universitario (IU)-Hospital, Buenos Aires, Argentina., Gonzalez ML; Instituto de Ciencias Básicas y Medicina Experimental (ICBME)-Instituto Universitario (IU)-Hospital, Buenos Aires, Argentina., Kalfayan P; Instituto de Ciencias Básicas y Medicina Experimental (ICBME)-Instituto Universitario (IU)-Hospital, Buenos Aires, Argentina., Ryan N; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester and St Mary's Hospital, Manchester, UK., Ten Broeke SW; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., 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, Aalborg University Hospital, Aalborg, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Bernstein I; Department of Surgical Gastroenterology, Aalborg University Hospital, Aalborg, Denmark.; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark., Burn J; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Greenblatt M; University of Vermont, Larner College of Medicine, Burlington, VT 05405, USA., de Vos Tot Nederveen Cappel WH; Department of Gastroenterology and Hepatology, Isala Clinics, Zwolle, The Netherlands., Della Valle A; Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Hospital Fuerzas Armadas, Montevideo, Uruguay., Lopez-Koestner F; Lab. Oncología y Genética Molecular, Unidad de coloproctología Clínica Las Condes, Santiago, Chile., Alvarez K; Lab. Oncología y Genética Molecular, Unidad de coloproctología Clínica Las Condes, Santiago, Chile., Büttner R; Institute of Pathology, University of Cologne, Cologne, Germany., Görgens H; Department of Surgery, Technische Universität Dresden, Dresden, Germany., Morak M; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ Medical Genetics Center, Munich, Germany., Holzapfel S; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.; Department of Internal Medicine I, University Hospital Bonn; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany., Hüneburg R; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.; Department of Internal Medicine I, University Hospital Bonn; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany., von Knebel Doeberitz M; 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, Duesseldorf, Germany., Weitz J; Department of Surgery, Technische Universität Dresden, Dresden, Germany., Pylvänäinen K; Department of Education and Science, Central Finland Health Care District, yväskylä, Finland., Renkonen-Sinisalo L; Department of Obstetrics and Gynecology and Tays Cancer Centre, Tampere University Hospital and Tampere University, Tampere, Finland., Lepistö A; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, Applied Tumour Genomics Research Program, University of Helsinki, Helsinki, Finland., Auranen A; Department of Obstetrics and Gynecology and Tays Cancer Centre, Tampere University Hospital and Tampere University, Tampere, Finland., Hopper JL; Department of Health Science Research, Mayo Clinic Arizona, Phoenix, AZ, USA., 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, Stanford, 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; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA., Thibodeau SN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., 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; Dept. of Obstetrics and Gynaecology, Copenhagen University Hospital, Rigshospitalet, Denmark., Denton OG; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK., Rødland EA; Department of Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway., Vasen H; Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The Netherlands., Neffa F; Institute of Pathology, University of Cologne, Cologne, Germany., Esperon P; Institute of Pathology, University of Cologne, Cologne, Germany., Tjandra D; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melborne, Australia.; Department of Medicine, Melbourne University, Melborne, Australia., Möslein G; Surgical Center for Hereditary Tumors, Ev. Bethesda Khs Duisburg, University Witten-Herdecke, Herdecke, Germany., Sampson JR; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK., Evans DG; Division of Evolution and Genomic Medicine, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Seppälä TT; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland.; Department of Surgical Oncology, Johns Hopkins Hospital, Baltimore, MD, USA., Møller P; Department of Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway. moller.pal@gmail.com.
Jazyk: angličtina
Zdroj: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Apr; Vol. 23 (4), pp. 705-712. Date of Electronic Publication: 2020 Dec 01.
DOI: 10.1038/s41436-020-01029-1
Abstrakt: Purpose: To determine impact of risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) on gynecological cancer incidence and death in heterozygotes of pathogenic MMR (path_MMR) variants.
Methods: The Prospective Lynch Syndrome Database was used to investigate the effects of gynecological risk-reducing surgery (RRS) at different ages.
Results: Risk-reducing hysterectomy at 25 years of age prevents endometrial cancer before 50 years in 15%, 18%, 13%, and 0% of path_MLH1, path_MSH2, path_MSH6, and path_PMS2 heterozygotes and death in 2%, 2%, 1%, and 0%, respectively. Risk-reducing BSO at 25 years of age prevents ovarian cancer before 50 years in 6%, 11%, 2%, and 0% and death in 1%, 2%, 0%, and 0%, respectively. Risk-reducing hysterectomy at 40 years prevents endometrial cancer by 50 years in 13%, 16%, 11%, and 0% and death in 1%, 2%, 1%, and 0%, respectively. BSO at 40 years prevents ovarian cancer before 50 years in 4%, 8%, 0%, and 0%, and death in 1%, 1%, 0%, and 0%, respectively.
Conclusion: Little benefit is gained by performing RRS before 40 years of age and premenopausal BSO in path_MSH6 and path_PMS2 heterozygotes has no measurable benefit for mortality. These findings may aid decision making for women with LS who are considering RRS.
Databáze: MEDLINE
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