ArticleHereditary cancer in clinical practice2022
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
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Article in Hereditary cancer in clinical practice, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
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30citing papers in PubMed, 2 pooled it
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Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.International journal of clinical oncology · 2026Guideline
- [Gender-specific differences in the development of colorectal cancer in Lynch syndrome patients-A systematic review].Chirurgie (Heidelberg, Germany) · 2024Pooled it
- Pan-cancer prevalence of microsatellite instability and Lynch syndrome in India.Familial cancer · 2026Article
- The Gap Between Perceived and Objective Diet Quality in Patients with Lynch Syndrome.Nutrients · 2026Article
- Routes to colorectal cancer in Lynch syndrome: a decade of molecular and clinical insights converging on Schrödinger's cat.Familial cancer · 2026Review
- Incidence Rates of Melanoma and Lung Cancer Are Generally Low in the Lynch Syndromes and Vary AcrossCancers · 2026Article
- Vaccine strategies for cancer prevention in Lynch syndrome: the potential of dendritic cell-based therapy.Familial cancer · 2026Review
- Patients' and family members' experiences with cascade testing for Lynch syndrome in the USA: a qualitative interview study.Journal of community genetics · 2026Article
- Lynch Syndrome as a Spectrum of Four Distinct Genetic Disorders: Toward Genotype-Guided Precision Management in the NGS Era.Cancers · 2026Review
- Landscape of germline genetic alterations among non-western young male patients with cancer. Findings from The Jordanian exploratory cancer genetics study.Frontiers in oncology · 2026Article
- Incidence of non-colorectal/endometrial malignancies in individuals with Lynch syndrome: a retrospective cohort study.EClinicalMedicine · 2025Article
- Polygenic Score Complements Family History and Lynch Syndrome Genes for Predicting Colorectal Cancer Risk.JCO precision oncology · 2025Article
- Evaluation of user experiences, perceptions and attitudes towards faecal immunochemical testing (FIT) for risk-stratified colonoscopy in people with Lynch syndrome.BMJ open gastroenterology · 2025Article
- Hereditary Colorectal Cancer: From Diagnosis to Surgical Options.Clinics in colon and rectal surgery · 2025Review
- Endoscopic surveillance for colorectal cancer and its precursor lesions in Lynch syndrome; time for some policy shifts?Hereditary cancer in clinical practice · 2025Article
- Colorectal carcinogenesis in the Lynch syndromes and familial adenomatous polyposis: trigger events and downstream consequences.Hereditary cancer in clinical practice · 2025Review
- Lynch syndrome and colorectal cancer: A review of current perspectives in molecular genetics and clinical strategies.Oncology research · 2025Review
- Outcomes of endometrial cancer prevention strategies in patients with Lynch syndrome: a nationwide cohort study in the Netherlands.EClinicalMedicine · 2025Article
- Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated "Big Bang" pathway to CRC in three of the four Lynch syndromes.Hereditary cancer in clinical practice · 2024Article
- Review
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Authors and funding
158 authors at 20 institutions in 29 countries.
Pål MøllerDepartment of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379, Oslo, Norway. moller.pal@gmail.com.
Toni SeppäläDepartment of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland.
James G DowtyCentre of Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, 3010, Australia.
Saskia HauptEngineering Mathematics and Computing Lab (EMCL), Interdisciplinary Center for Scientific Computing (IWR), Heidelberg University, Heidelberg, Germany.
Mev Dominguez-ValentinDepartment of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379, Oslo, Norway.
Lone SundeDepartment of Clinical Genetics, Aalborg University Hospital, 9000, Aalborg, Denmark.
Inge BernsteinDepartment of Surgical Gastroenterology, Aalborg University Hospital, Aalborg University, 9100, Aalborg, Denmark.
Christoph EngelInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107, Leipzig, Germany.
Stefan AretzInstitute of Human Genetics, National Center for Hereditary Tumor Syndromes, Medical Faculty, University of Bonn, 53127, Bonn, Germany.
Maartje NielsenDepartment of Clinical Genetics, Leids Universitair Medisch Centrum, 2300RC, Leiden, The Netherlands.
Gabriel CapellaHereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L; Hospitalet de Llobregat, 08908, Barcelona, Spain.
Dafydd Gareth EvansDivision of Evolution and Genomic Sciences, Manchester Centre for Genomic Medicine, University of Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.
John BurnTranslational & Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
Elke Holinski-FederCampus Innenstadt, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, 80336, Munich, Germany.
Lucio BertarioDivision of Cancer Prevention and Genetics, IEO, European Institute of Oncology, IRCCS, 20141, Milan, Italy.
Bernardo BonanniDivision of Cancer Prevention and Genetics, IEO, European Institute of Oncology, IRCCS, 20141, Milan, Italy.
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, 171 76, Stockholm, Sweden.
Zohar LeviDepartment Rabin Medical Center, Service High Risk GI Cancer Gastroenterology, Petach Tikva, Israel.
Finlay MacraeColorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.
Ingrid WinshipColorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.
John-Paul PlazzerThe Royal Melbourne Hospital, Melbourne, Australia.
Rolf SijmonsDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Luigi LaghiDepartment of Medicine and Surgery, Laboratory of Molecular Gastroenterology, IRCCS Humanitas Research Hospital, University of Parma, Parma, Italy.
Adriana Della ValleHospital Fuerzas Armadas, Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Montevideo, Uruguay.
Karl HeinimannMedical Genetics, Institute for Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
Elizabeth HalfGastrointestinal Cancer Prevention Unit, Gastroenterology Department, Rambam Health Care Campus, Haifa, Israel.
Francisco Lopez-KoestnerPrograma Cáncer Heredo Familiar Clínica Universidad de los Ande, Santiago, Chile.
Karin Alvarez-ValenzuelaPrograma Cáncer Heredo Familiar Clínica Universidad de los Ande, Santiago, Chile.
Rodney J ScottUniversity of Newcastle and the Hunter Medical Research Institute, Callaghan, Australia.
Lior KatzDepartment of Gastroenterology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Ido LaishThe Department of Gastroenterology, High Risk and GI Cancer Prevention Clinic, Gastro-Oncology Unit, Sheba Medical Center, Ramat Gan, Israel.
Elez VainerDepartment of Gastroenterology, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Carlos Alberto VaccaroHereditary Cancer Program (PROCANHE), Hospital Italiano de Buenos Aires, Ciudad Autónoma de Buenos Aires, Buenos Aires, Argentina.
Dirce Maria CarraroGenomic and Molecular Biology Group, A.C.Camargo Cancer Center, Sao Paulo, Brazil.
Nathan GluckDepartment of Gastroenterology, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Naim Abu-FrehaThe Institute of Gastroenterology and Hepatology, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Aine StakelumSt Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
Rory KennellySt Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
Des WinterSt Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
Benedito Mauro RossiHospital Sirio Libanes, Sao Paulo, Brazil.
Marc GreenblattUniversity of Vermont, Larner College of Medicine, Burlington, VT, 05405, USA.
Mabel BohorquezUniversity of Tolima, Tolima, Colombia.
Harsh ShethFoundation for Research in Genetics and Endocrinology, FRIGE House, Jodhpur Village Road, Satellite Ahmedabad, Ahmedabad, 380015, India.
Maria Grazia TibilettiOspedale di Circolo ASST Settelaghi, Centro di Ricerca Tumori Eredo-Familiari, Università dell'Insubria, Varese, Italy.
Leonardo S Lino-SilvaInstituto Nacional de Cancerologia, Mexico, DF, Mexico.
Karoline HorisbergerDepartment of Abdominal and Transplantation Surgery, Universitätsspital Zürich, Rämistrasse 100, CH-8091, Zürich, Switzerland.
Carmen PortenkirchnerDepartment of Abdominal and Transplantation Surgery, Universitätsspital Zürich, Rämistrasse 100, CH-8091, Zürich, Switzerland.
Ivana NascimentoLaboratório de Imonologia, ICS/UFBA, Núcleo de Oncologia da Bahia/Oncoclinicas, Salvador, Brazil.
Norma Teresa RossiHospital Privado Universitario de Córdoba, Cordoba, Argentina.
Leandro Apolinário da SilvaHospital Universitario Oswaldo Cruz, Universidade de Pernambuco, Hospital de Câncer de Pernambuco, IPON - Instituto de Pesquisas Oncológicas do Nordeste, Salvador, Brazil.
Huw ThomasDepartment of Surgery and Cancer, St Mark's Hospital, Imperial College London, London, UK.
Attila ZarándDepartment of Transplantation and Surgery, Semmelweis University Budapest, Budapest, Hungary.
Jukka-Pekka MecklinFaculty of Sport and Health Sciences, University of Jyväskylä, Jyväskylä, Finland.
Kirsi PylvänäinenDepartment of Education and Science, Central Finland Health Care District, Jyväskylä, Finland.
Laura Renkonen-SinisaloDepartment of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland.
Anna LepistoDepartment of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland.
Päivi PeltomäkiDepartment of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Christina TherkildsenThe Danish HNPCC Register, Gastro Unit, Copenhagen University Hospital - Amager and Hvidovre, Copenhagen, Denmark.
Lars Joachim LindbergThe Danish HNPCC Register, Gastro Unit, Copenhagen University Hospital - Amager and Hvidovre, Copenhagen, Denmark.
Ole Thorlacius-UssingDepartment of Surgical Gastroenterology, Aalborg University Hospital, Aalborg University, 9100, Aalborg, Denmark.
Magnus von Knebel DoeberitzDepartment of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
Markus LoefflerInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Nils RahnerInstitute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany.
Verena Steinke-LangeCampus Innenstadt, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, 80336, Munich, Germany.
Wolff SchmiegelDepartment of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany.
Deepak VangalaDepartment of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany.
Claudia PerneInstitute of Human Genetics, National Center for Hereditary Tumor Syndromes, Medical Faculty, University of Bonn, 53127, Bonn, Germany.
Robert HüneburgDepartment of Internal Medicine, University Hospital Bonn, Bonn, Germany.
Aída Falcón de VargasGenetics Unit, Hospital Vargas de Caracas, Caracas, Venezuela.
Andrew LatchfordSt Mark's Hospital, London, UK.
Anne-Marie GerdesDepartment of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, DK-2100, Copenhagen, Denmark.
Ann-Sofie BackmanDepartment of Medicine Solna, Unit of Internal medicine, Karolinska Institutet, Stockholm, Sweden.
Carmen Guillén-PonceMedical Oncology Department, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.
Carrie SnyderHereditary Cancer Center, Department of Preventive Medicine, Creighton University, Omaha, NE, 68178, USA.
Charlotte K LautrupDepartment of Clinical Genetics, Aalborg University Hospital, 9000, Aalborg, Denmark.
David AmorMurdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, VIC, 3052, Australia.
Edenir PalmeroDepartment of Genetics, Brazilian National Cancer Institute, Rio de Janeiro, Brazil.
Elena StoffelDepartment of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Floor DuijkersDepartment of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.
Michael J HallDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, USA.
Heather HampelDivision of Human Genetics, The Ohio State University Comprehensive Cancer Center, Columbus, OH, 43210, USA.
Heinric WilliamsDepartment of Urology, Geisinger Medical Center, Danville, PA, 17822, USA.
Henrik OkkelsDepartment of Molecular Diagnostics, Aalborg University, Aalborg, Denmark.
Jan LubińskiDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University in Szczecin, Szczecin, Poland.
Jeanette ReeceCentre of Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, 3010, Australia.
Joanne NgeowLee Kong Chian School of Medicine, Nanyang Technological University Singapore and Cancer Genetics Service National Cancer Centre Singapore, Singapore, Singapore.
Jose G GuillemGastrointestinal Surgery, University of North Carolina, Chapel Hill, NC, USA.
Julie ArnoldNew Zealand Familial Gastrointestinal Cancer Service, Auckland, New Zealand.
Karin WadtDepartment of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, DK-2100, Copenhagen, Denmark.
Kevin MonahanSt Mark's Hospital & Imperial College, London, UK.
Leigha SenterOhio State University Comprehensive Cancer Center, Columbus, OH, 43210, USA.
Lene J RasmussenDepartment of Cellular and Molecular Medicine, Center for Healthy Aging, University of Copenhagen, Copenhagen, Denmark.
Liselotte P van HestDepartment of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
Luigi RicciardielloIRCCS AOU di Bologna, and Department of Medical and Surgical Sciences - University of Bologna, Bologna, Italy.
Maija R J Kohonen-CorishWoolcock Institute of Medical Research, Glebe, Sydney, NSW, 2037, Australia.
Marjolijn J L LigtenbergDepartment of Human Genetics and Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands.
Melissa SoutheyMonash Health Translation Precinct, Monash University, Clayton South, VIC, 3169, Australia.
Melyssa AronsonZane Cohen Centre, Sinai Health System, Toronto, Ontario, Canada.
Mohd N ZaharyFaculty of Health Sciences, University Sultan Zainal Abidin, Kuala Terengganu, Terengganu, Malaysia.
N Jewel SamadderDivision of Gastroenterology and Hepatology, Mayo Clinic, Phoenix, AZ, 85054, USA.
Nicola PoplawskiAdelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia.
Nicoline HoogerbruggeDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Patrick J MorrisonRegional Medical Genetics Centre, Belfast HSC Trust, City Hospital Campus, Queen's University Belfast, Belfast, Northern Ireland, UK.
Paul JamesPeter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC, 3010, Australia.
Grant LeeGenomics Platform Group, Centre for Cancer Research, University of Melbourne, Parkville, VIC, Australia.
Rakefet Chen-ShtoyermanThe Biology Department, Ariel University, Ariel and the Oncogenetic Clinic, The Clinical Genetics Institute, Kaplan Medical Center, Rehovot, Israel.
Ravindran AnkathilHuman Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.
Rish PaiDepartment of Laboratory Medicine and Pathology, Mayo Clinic Arizona, Scottsdale, AZ, 85259, USA.
Robyn WardFaculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.
Susan ParryNew Zealand Familial Gastrointestinal Cancer Service, Auckland, New Zealand.
Tadeusz DębniakDepartment of Genetics and Pathology, Pomeranian Medical University in Szczecin, Szczecin, Poland.
Thomas JohnDepartment of Medical Oncology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Thomas van Overeem HansenDepartment of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, DK-2100, Copenhagen, Denmark.
Trinidad CaldésMolecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC, Madrid, Spain.
Tatsuro YamaguchiDepartment of Clinical Genetics, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.
Verónica Barca-TiernoDepartment of Genetics, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.
Pilar GarreMolecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC, Madrid, Spain.
Giulia Martina CavestroGastroenterology and Gastrointestinal Endoscopy Unit, Vita-Salute San Raffaele University, San Raffaele Scientific Institute, Milan, Italy.
Jürgen WeitzTechnische Universität Dresden, Dresden, Germany.
Silke RedlerInstitute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany.
Reinhard BüttnerDepartment of Pathology, University Hospital of Cologne, Cologne, Germany.
Vincent HeuvelineEngineering Mathematics and Computing Lab (EMCL), Interdisciplinary Center for Scientific Computing (IWR), Heidelberg University, Heidelberg, Germany.
John L HopperCentre of Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, 3010, Australia.
Aung Ko WinCentre of Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, 3010, Australia.
Noralane LindorDepartment of Health Science Research, Mayo Clinic Arizona, Phoenix, USA.
Steven GallingerLunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, Canada.
Loïc Le MarchandUniversity of Hawaii Cancer Center, Honolulu, USA.
Polly A NewcombPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109-1024, USA.
Jane FigueiredoPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109-1024, USA.
Daniel D BuchananColorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, Victoria, Australia.
Stephen N ThibodeauDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
Sanne W Ten BroekeLeids Universitair Medisch Centrum, Leiden, Netherlands.
Eivind HovigDepartment of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379, Oslo, Norway.
Sigve NakkenDepartment of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379, Oslo, Norway.
Marta PinedaHereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L; Hospitalet de Llobregat, 08908, Barcelona, Spain.
Nuria DueñasHereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L; Hospitalet de Llobregat, 08908, Barcelona, Spain.
Joan BrunetHereditary Cancer Program, Institut Català d'Oncologia-IDIBELL, L; Hospitalet de Llobregat, 08908, Barcelona, Spain.
Kate GreenDivision of Evolution and Genomic Sciences, Manchester Centre for Genomic Medicine, University of Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.
Fiona LallooDivision of Evolution and Genomic Sciences, Manchester Centre for Genomic Medicine, University of Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.
Katie NewtonDepartment of Surgery, Central Manchester University Hospitals NHS Foundation Trust and University of Manchester, Manchester, UK.
Emma J CrosbieGynaecological Oncology Research Group, Manchester University NHS Foundation Trust, Manchester, UK.
Miriam MintsDivision of Obstetrics and Gyneacology, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden.
Douglas TjandraColorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.
Florencia NeffaHospital Fuerzas Armadas, Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Montevideo, Uruguay.
Patricia EsperonHospital Fuerzas Armadas, Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Montevideo, Uruguay.
Revital KarivDepartment of Gastroenterology, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Guy RosnerDepartment of Gastroenterology, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Walter Hernán PavicicHereditary Cancer Program (PROCANHE), Hospital Italiano de Buenos Aires, Ciudad Autónoma de Buenos Aires, Buenos Aires, Argentina.
Pablo KalfayanHereditary Cancer Program (PROCANHE), Hospital Italiano de Buenos Aires, Ciudad Autónoma de Buenos Aires, Buenos Aires, Argentina.
Giovana Tardin TorrezanGenomic and Molecular Biology Group, A.C.Camargo Cancer Center, Sao Paulo, Brazil.
Thiago BassanezeHospital Sirio Libanes, Sao Paulo, Brazil.
Claudia MartinHospital Universitario Oswaldo Cruz, Universidade de Pernambuco, Hospital de Câncer de Pernambuco, IPON - Instituto de Pesquisas Oncológicas do Nordeste, Salvador, Brazil.
Gabriela MosleinSurgical Center for Hereditary Tumors, Ev. Bethesda Khs Duisburg, University Witten-Herdecke, Herdecke, Germany.
Aysel AhadovaDepartment of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
Matthias KloorDepartment of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
Julian R SampsonDivision of Cancer and Genetics, Institute of Medical Genetics, Cardiff University School of Medicine, Heath Park, Cardiff, CF14 4XN, UK.
Mark A JenkinsCentre of Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, 3010, Australia.
European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC)
University of Melbourne · AUManchester University NHS Foundation Trust · GBNorwegian Cancer Society · NOAalborg University Hospital · DKCopenhagen University Hospital · DKHeidelberg University · DEHospital Central de las Fuerzas Armadas · UYKarolinska Institutet · SESt. Vincent's University Hospital · IETel Aviv Sourasky Medical Center · ILAjuntament de L’Hospitalet · ESAmsterdam University Medical Centers · NLCancer Society of New Zealand · NZCentral Finland Health Care District · FIEuropean Institute of Oncology · ITFred Hutch Cancer Center · USHelsinki University Hospital · FIHospital Italiano de Buenos Aires · ARHospital Sírio-Libanês · BRHospital Universitario Ramón y Cajal · ES
Funding
University of Hawaii Cancer Center CCSGP30CA071789 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI Xin Chen · 1996 to 2026
$56.2MData sharing: the Colon Cancer Family Registry CohortU01CA167551 · NCI · UNIVERSITY OF MELBOURNE · PI Daniel David BUCHANAN, Steven Gallinger · 2018 to 2026
$16.8MNCI NIH HHS P30 CA071789
Abstract
objectiveTo compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants.
methodsCRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. Comparison was made with a retrospective cohort reported by the International Mismatch Repair Consortium (IMRC). This comprised confirmed and inferred path_MMR carriers who were first- or second-degree relatives of Lynch syndrome probands.
resultsIn the PLSD, 8,153 subjects had follow-up colonoscopy surveillance for a total of 67,604 years and 578 carriers had CRC diagnosed. Average cumulative incidences of CRC in path_MLH1 carriers at 70 years of age were 52% in males and 41% in females; for path_MSH2 50% and 39%; for path_MSH6 13% and 17% and for path_PMS2 11% and 8%. In contrast, in the IMRC cohort, corresponding cumulative incidences were 40% and 27%; 34% and 23%; 16% and 8% and 7% and 6%. Comparing just the European carriers in the two series gave similar findings. Numbers in the PLSD series did not allow comparisons of carriers from other continents separately. Cumulative incidences at 25 years were < 1% in all retrospective groups.
conclusionsProspectively observed CRC incidences (PLSD) in path_MLH1 and path_MSH2 carriers undergoing colonoscopy surveillance and polypectomy were higher than in the retrospective (IMRC) series, and were not reduced in path_MSH6 carriers. These findings were the opposite to those expected. CRC point incidence before 50 years of age was reduced in path_PMS2 carriers subjected to colonoscopy, but not significantly so.
Indexed as
ColonoscopyColorectal cancerEpidemiologyIncidenceLynch SyndromeOver-diagnosisPenetrancePreventionProspectiveSegregation analysis
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