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

Mev Dominguez-Valentin, Toni T. Seppälä, Julian R. Sampson, Finlay MacRae, Ingrid Winship, D. Gareth Evans, Rodney J. Scott, John Burn, Gabriela Möslein, Inge Bernstein, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Annika Lindblom, John Paul Plazzer, Douglas Tjandra, Huw Thomas, Kate Green, Fiona Lalloo, Emma J. CrosbieJames Hill, Gabriel Capella, Marta Pineda, Matilde Navarro, Joan Brunet Vidal, Karina Rønlund, Randi Thyregaard Nielsen, Mette Yilmaz, Louise Laurberg Elvang, Lior Katz, Maartje Nielsen, Sanne W. Ten Broeke, Sigve Nakken, Eivind Hovig, Lone Sunde, Matthias Kloor, Magnus V. Knebel Doeberitz, Aysel Ahadova, Noralane Lindor, Verena Steinke-Lange, Elke Holinski-Feder, Jukka Pekka Mecklin, Pål Møller

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Background: We 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. Methods: The 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. Results: Ninety-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). Conclusions: In 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.

Original languageEnglish (US)
Article number28
JournalHereditary Cancer in Clinical Practice
Issue number1
StatePublished - Oct 14 2019


  • Cancer stage
  • Colon cancer
  • Colonoscopy
  • Lynch syndrome
  • Surveillance
  • Survival

ASJC Scopus subject areas

  • Oncology
  • Genetics(clinical)


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