OBJECTIVE: In recent years persons at risk for colorectal cancers (CRC) have been subjected to follow-up with colonoscopy in many centres. There is, however, limited knowledge about the effect of such interventions. The objective of this study was to report the results of our observations during the past 15 years. MATERIAL AND METHODS: Healthy persons were included in the study according to their family history of CRCs, and prospectively followed with colonoscopies. RESULTS: Altogether, 1133 individuals were included and observed for a total of 3474 follow-up years from the first to the last colonoscopy initiated by our activity. Mismatch repair (MMR) mutations were detected in 6.5% of cases. A total of 1383 polyps were removed, 72% were less than 5 mm in diameter. Findings were scored as hyperplastic polyps (n=887), adenomas with mild to moderate dysplasia (n=460), adenomas with high-grade dysplasia (n=30) and cancers (n=6). Two cancers were observed after the first colonoscopy, compared with 2.6 expected by chance and more than 20 expected under the hypothesis of predominant inherited diseases in the families. Observed annual incidence rates for adenomas were similar in all groups, while in the mutation carriers there was a higher frequency of progression to severe dysplasia or infiltrating cancer. CONCLUSIONS: A simple explanation for the combined findings may be that all selected families had a similar tendency to produce adenomas, while mutation carriers more frequently demonstrated dysplasia/cancer in the adenomas. The low annual incidence rates for CRC indicated that the removal of adenomas may have prevented cancers.
OBJECTIVE: In recent years persons at risk for colorectal cancers (CRC) have been subjected to follow-up with colonoscopy in many centres. There is, however, limited knowledge about the effect of such interventions. The objective of this study was to report the results of our observations during the past 15 years. MATERIAL AND METHODS: Healthy persons were included in the study according to their family history of CRCs, and prospectively followed with colonoscopies. RESULTS: Altogether, 1133 individuals were included and observed for a total of 3474 follow-up years from the first to the last colonoscopy initiated by our activity. Mismatch repair (MMR) mutations were detected in 6.5% of cases. A total of 1383 polyps were removed, 72% were less than 5 mm in diameter. Findings were scored as hyperplastic polyps (n=887), adenomas with mild to moderate dysplasia (n=460), adenomas with high-grade dysplasia (n=30) and cancers (n=6). Two cancers were observed after the first colonoscopy, compared with 2.6 expected by chance and more than 20 expected under the hypothesis of predominant inherited diseases in the families. Observed annual incidence rates for adenomas were similar in all groups, while in the mutation carriers there was a higher frequency of progression to severe dysplasia or infiltrating cancer. CONCLUSIONS: A simple explanation for the combined findings may be that all selected families had a similar tendency to produce adenomas, while mutation carriers more frequently demonstrated dysplasia/cancer in the adenomas. The low annual incidence rates for CRC indicated that the removal of adenomas may have prevented cancers.
Authors: Gergely Buglyó; Jakub Styk; Ondrej Pös; Ádám Csók; Vanda Repiska; Beáta Soltész; Tomas Szemes; Bálint Nagy Journal: Int J Mol Sci Date: 2022-04-13 Impact factor: 6.208
Authors: Eli Marie Grindedal; Ignacio Blanco; Astrid Stormorken; Lovise Maehle; Neal Clark; Sara González; Gabriel Capella; Hans Vasen; John Burn; Pål Møller Journal: Fam Cancer Date: 2008-10-08 Impact factor: 2.375
Authors: H F A Vasen; G Möslein; A Alonso; I Bernstein; L Bertario; I Blanco; J Burn; G Capella; C Engel; I Frayling; W Friedl; F J Hes; S Hodgson; J-P Mecklin; P Møller; F Nagengast; Y Parc; L Renkonen-Sinisalo; J R Sampson; A Stormorken; J Wijnen Journal: J Med Genet Date: 2007-02-27 Impact factor: 6.318
Authors: Pål Møller; Toni Seppälä; Inge Bernstein; Elke Holinski-Feder; Paola Sala; D Gareth Evans; Annika Lindblom; Finlay Macrae; Ignacio Blanco; Rolf Sijmons; Jacqueline Jeffries; Hans Vasen; John Burn; Sigve Nakken; Eivind Hovig; Einar Andreas Rødland; Kukatharmini Tharmaratnam; Wouter H de Vos Tot Nederveen Cappel; James Hill; Juul Wijnen; Kate Green; Fiona Lalloo; Lone Sunde; Miriam Mints; Lucio Bertario; Marta Pineda; Matilde Navarro; Monika Morak; Laura Renkonen-Sinisalo; Ian M Frayling; John-Paul Plazzer; Kirsi Pylvanainen; Julian R Sampson; Gabriel Capella; Jukka-Pekka Mecklin; Gabriela Möslein Journal: Gut Date: 2015-12-09 Impact factor: 23.059
Authors: Toni Seppälä; Kirsi Pylvänäinen; Dafydd Gareth Evans; Heikki Järvinen; Laura Renkonen-Sinisalo; Inge Bernstein; Elke Holinski-Feder; Paola Sala; Annika Lindblom; Finlay Macrae; Ignacio Blanco; Rolf Sijmons; Jacqueline Jeffries; Hans Vasen; John Burn; Sigve Nakken; Eivind Hovig; Einar Andreas Rødland; Kukatharmini Tharmaratnam; Wouter H de Vos Tot Nederveen Cappel; James Hill; Juul Wijnen; Mark Jenkins; Maurizio Genuardi; Kate Green; Fiona Lalloo; Lone Sunde; Miriam Mints; Lucio Bertario; Marta Pineda; Matilde Navarro; Monika Morak; Ian M Frayling; John-Paul Plazzer; Julian R Sampson; Gabriel Capella; Gabriela Möslein; Jukka-Pekka Mecklin; Pål Møller Journal: Hered Cancer Clin Pract Date: 2017-10-10 Impact factor: 2.857
Authors: Toni T Seppälä; Aysel Ahadova; Mev Dominguez-Valentin; Finlay Macrae; D Gareth Evans; Christina Therkildsen; Julian Sampson; Rodney Scott; John Burn; Gabriela Möslein; Inge Bernstein; Elke Holinski-Feder; Kirsi Pylvänäinen; Laura Renkonen-Sinisalo; Anna Lepistö; Charlotte Kvist Lautrup; Annika Lindblom; John-Paul Plazzer; Ingrid Winship; Douglas Tjandra; Lior H Katz; Stefan Aretz; Robert Hüneburg; Stefanie Holzapfel; Karl Heinimann; Adriana Della Valle; Florencia Neffa; Nathan Gluck; Wouter H de Vos Tot Nederveen Cappel; Hans Vasen; Monika Morak; Verena Steinke-Lange; Christoph Engel; Nils Rahner; Wolff Schmiegel; Deepak Vangala; Huw Thomas; Kate Green; Fiona Lalloo; Emma J Crosbie; James Hill; Gabriel Capella; Marta Pineda; Matilde Navarro; Ignacio Blanco; Sanne Ten Broeke; Maartje Nielsen; Ken Ljungmann; Sigve Nakken; Noralane Lindor; Ian Frayling; Eivind Hovig; Lone Sunde; Matthias Kloor; Jukka-Pekka Mecklin; Mette Kalager; Pål Møller Journal: Hered Cancer Clin Pract Date: 2019-02-28 Impact factor: 2.857