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

  • Dominguez-Valentin, Mev1
  • Seppälä, Toni T.2, 3
  • Sampson, Julian R.4
  • Macrae, Finlay5, 6
  • Winship, Ingrid5, 6
  • Evans, D. Gareth7
  • Scott, Rodney J.8
  • Burn, John9
  • Möslein, Gabriela10
  • Bernstein, Inge11
  • Pylvänäinen, Kirsi12
  • Renkonen-Sinisalo, Laura2, 13
  • Lepistö, Anna2, 13
  • Lindblom, Annika14
  • Plazzer, John-Paul5
  • Tjandra, Douglas6
  • Thomas, Huw15
  • Green, Kate7
  • Lalloo, Fiona7
  • Crosbie, Emma J.16
  • And 23 more
  • 1 Oslo University Hospital, Department of Tumor Biology, Institute of Cancer Research, Oslo, Norway , Oslo (Norway)
  • 2 Helsinki University Central Hospital, Department of Gastrointestinal Surgery, Helsinki, Finland , Helsinki (Finland)
  • 3 Clinicum, University of Helsinki, Helsinki, Finland , Helsinki (Finland)
  • 4 Institute of Medical Genetics, Cardiff University School of Medicine, Division of Cancer and Genetics, Cardiff, UK , Cardiff (United Kingdom)
  • 5 The Royal Melbourne Hospital, Melbourne, Australia , Melbourne (Australia)
  • 6 University of Melbourne, Melbourne, Australia , Melbourne (Australia)
  • 7 University of Manchester & Manchester University Hospitals Foundation Trust, Manchester, UK , Manchester (United Kingdom)
  • 8 University of Newcastle and the Hunter Medical Research Institute, Callaghan, Australia , Callaghan (Australia)
  • 9 University of Newcastle, Newcastle upon Tyne, UK , Newcastle upon Tyne (United Kingdom)
  • 10 University Witten-Herdecke, Wuppertal, Germany , Wuppertal (Germany)
  • 11 Aalborg University Hospital, Department of Surgical Gastroenterology, Aalborg, Denmark , Aalborg (Denmark)
  • 12 Central Finland Central Hospital, Education and Research, Jyväskylä, Finland , Jyväskylä (Finland)
  • 13 University of Helsinki, Research Programs Unit, Genome-Scale Biology, Helsinki, Finland , Helsinki (Finland)
  • 14 Karolinska Institutet, Stockholm, Sweden , Stockholm (Sweden)
  • 15 Imperial College London, St Mark’s Hospital, Department of Surgery and Cancer, London, UK , London (United Kingdom)
  • 16 University of Manchester and St Mary’s Hospital, Manchester, UK , Manchester (United Kingdom)
  • 17 Hereditary Cancer Program, Catalan Institute of Oncology, Insititut d’Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, L’Hospitalet de Llobregat, Barcelona, Spain , Barcelona (Spain)
  • 18 Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain , Madrid (Spain)
  • 19 Vejle Hospital, Department of Clinical Genetics, Vejle, Denmark , Vejle (Denmark)
  • 20 Regional Hospital West Jutland, Department of Surgery, Egtved, Denmark , Egtved (Denmark)
  • 21 Aalborg University Hospital, Department of Oncology, Aalborg, Denmark , Aalborg (Denmark)
  • 22 Herlev Gentofte University Hospital, Department of Pathology, Herlev, Denmark , Herlev (Denmark)
  • 23 Sheba Medical Center, High Risk and GI Cancer prevention Clinic, Gatro-Oncology Unit, The Department of Gastroenterology, Ramat Gan, Israel , Ramat Gan (Israel)
  • 24 Leids Universitair Medisch Centrum, Leiden, Netherlands , Leiden (Netherlands)
  • 25 University of Oslo, Center for Bioinformatics, Department of Informatics, Oslo, Norway , Oslo (Norway)
  • 26 Aarhus University Hospital, Department of Clinical Genetics, Aarhus, Denmark , Aarhus (Denmark)
  • 27 Institute of Pathology, University Hospital Heidelberg, Department of Applied Tumor Biology, Heidelberg, Germany , Heidelberg (Germany)
  • 28 German Cancer Research Center (DKFZ), Cooperation Unit Applied Tumor Biology, Heidelberg, Germany , Heidelberg (Germany)
  • 29 Mayo Clinic, Department of Health Sciences Research, Scottsdale, AZ, USA , Scottsdale (United States)
  • 30 Klinikum der Universität München, Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Munich, Germany , Munich (Germany)
  • 31 MGZ- Medical Genetics Center, Munich, Germany , Munich (Germany)
  • 32 Central Finland Central Hospital, Department of Surgery, Jyväskylä, Finland , Jyväskylä (Finland)
  • 33 University of Jyväskylä, Faculty of Sport and Health Sciences, Jyväskylä, Finland , Jyväskylä (Finland)
Published Article
Hereditary Cancer in Clinical Practice
BioMed Central
Publication Date
Oct 14, 2019
DOI: 10.1186/s13053-019-0127-3
Springer Nature


BackgroundWe previously reported that in pathogenic mismatch repair (path_MMR) variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy was undertaken more frequently than once every 3 years, and that CRC stage and interval since last colonoscopy were not correlated.MethodsThe Prospective Lynch Syndrome Database (PLSD) that records outcomes of surveillance was examined to determine survival after colon cancer in relation to the time since previous colonoscopy and pathological stage. Only path_MMR variants scored by the InSiGHT variant database as class 4 or 5 (clinically actionable) were included in the analysis.ResultsNinety-nine path_MMR carriers had no cancer prior to or at first colonoscopy, but subsequently developed colon cancer. Among these, 96 were 65 years of age or younger at diagnosis, and included 77 path_MLH1, 17 path_MSH2, and 2 path_MSH6 carriers. The number of cancers detected within < 1.5, 1.5–2.5, 2.5–3.5 and at > 3.5 years after previous colonoscopy were 9, 43, 31 and 13, respectively. Of these, 2, 8, 4 and 3 were stage III, respectively, and only one stage IV (interval 2.5–3.5 years) disease. Ten-year crude survival after colon cancer were 93, 94 and 82% for stage I, II and III disease, respectively (p < 0.001). Ten-year crude survival when the last colonoscopy had been < 1.5, 1.5–2.5, 2.5–3.5 or > 3.5 years before diagnosis, was 89, 90, 90 and 92%, respectively (p = 0.91).ConclusionsIn path_MLH1 and path_MSH2 carriers, more advanced colon cancer stage was associated with poorer survival, whereas time since previous colonoscopy was not. Although the numbers are limited, together with our previously reported findings, these results may be in conflict with the view that follow-up of path_MMR variant carriers with colonoscopy intervals of less than 3 years provides significant benefit.

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