Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database
Background: we have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic MLH1 variants (path_MLH1) despite follow-up with colonoscopy including polypectomy. Methods: the cohort included Finnish carriers enrolled in 3-yearly colonoscopy (n = 505; 4625 observation...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2017 |
| País: | España |
| Institución: | Universidad de Barcelona |
| Repositorio: | Dipòsit Digital de la UB |
| OAI Identifier: | oai:diposit.ub.edu:2445/133001 |
| Acceso en línea: | https://hdl.handle.net/2445/133001 |
| Access Level: | acceso abierto |
| Palabra clave: | Càncer colorectal Colonoscòpia Finlàndia Colorectal cancer Colonoscopy Finland |
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Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome databaseSeppälä, Toni T.Pylvänäinen, KirsiEvans, D. GarethJärvinen, HeikkiRenkonen Sinisalo, LauraBernstein, IngeHolinski-Feder, ElkeSala, PaolaLindblom, AnnikaMacrae, FinlayBlanco, InlaySijmons, Rolf H.Jeffries, JacquelineVasen, HansBurn, JohnNakken, SigveHovig, EivindRødland, Einar AndreasTharmaratnam, KukatharminiDe Vos Tot Nederveen Cappel, Wouter H.Hill, JamesWijnen, JuulJenkins, Mark A.Genuardi, MaurizioGreen, KateLalloo, FionaSunde, LoneMints, MiriamBertario, LucioPineda Riu, MartaNavarro, MatildeMorak, MonikaFrayling, Ian M.Plazzer, John-PaulSampson, Julian R.Capellá, G. (Gabriel)Möslein, GabrielaMecklin, Jukka-PekkaMøller, PålMallorca GroupCàncer colorectalColonoscòpiaFinlàndiaColorectal cancerColonoscopyFinlandBackground: we have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic MLH1 variants (path_MLH1) despite follow-up with colonoscopy including polypectomy. Methods: the cohort included Finnish carriers enrolled in 3-yearly colonoscopy (n = 505; 4625 observation years) and carriers from other countries enrolled in colonoscopy 2-yearly or more frequently (n = 439; 3299 observation years). We examined whether the longer interval between colonoscopies in Finland could explain the high incidence of CRC and whether disease expression correlated with differences in population CRC incidence. Results: cumulative CRC incidences in carriers of path_MLH1 at 70-years of age were 41% for males and 36% for females in the Finnish series and 58% and 55% in the non-Finnish series, respectively (p > 0.05). Mean time from last colonoscopy to CRC was 32.7 months in the Finnish compared to 31.0 months in the non-Finnish (p > 0.05) and was therefore unaffected by the recommended colonoscopy interval. Differences in population incidence of CRC could not explain the lower point estimates for CRC in the Finnish series. Ten-year overall survival after CRC was similar for the Finnish and non-Finnish series (88% and 91%, respectively; p > 0.05). Conclusions: the hypothesis that the high incidence of CRC in path_MLH1 carriers was caused by a higher incidence in the Finnish series was not valid. We discuss whether the results were influenced by methodological shortcomings in our study or whether the assumption that a shorter interval between colonoscopies leads to a lower CRC incidence may be wrong. This second possibility is intriguing, because it suggests the dogma that CRC in path_MLH1 carriers develops from polyps that can be detected at colonoscopy and removed to prevent CRC may be erroneous. In view of the excellent 10-year overall survival in the Finnish and non-Finnish series we remain strong advocates of current surveillance practices for those with LS pending studies that will inform new recommendations on the best surveillance interval.BioMed Central2017info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/133001Articles publicats en revistes (Ciències Clíniques)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1186/s13053-017-0078-5Hereditary Cancer in Clinical Practice , 2017, vol. 15, num. 18, p. s13053https://doi.org/10.1186/s13053-017-0078-5cc-by (c) Seppälä, Toni T. et al., 2017http://creativecommons.org/licenses/by/3.0/esinfo:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1330012026-05-27T06:46:51Z |
| dc.title.none.fl_str_mv |
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database |
| title |
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database |
| spellingShingle |
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database Seppälä, Toni T. Càncer colorectal Colonoscòpia Finlàndia Colorectal cancer Colonoscopy Finland |
| title_short |
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database |
| title_full |
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database |
| title_fullStr |
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database |
| title_full_unstemmed |
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database |
| title_sort |
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database |
| dc.creator.none.fl_str_mv |
Seppälä, Toni T. Pylvänäinen, Kirsi Evans, D. Gareth Järvinen, Heikki Renkonen Sinisalo, Laura Bernstein, Inge Holinski-Feder, Elke Sala, Paola Lindblom, Annika Macrae, Finlay Blanco, Inlay Sijmons, Rolf H. Jeffries, Jacqueline Vasen, Hans Burn, John Nakken, Sigve Hovig, Eivind Rødland, Einar Andreas Tharmaratnam, Kukatharmini De Vos Tot Nederveen Cappel, Wouter H. Hill, James Wijnen, Juul Jenkins, Mark A. Genuardi, Maurizio Green, Kate Lalloo, Fiona Sunde, Lone Mints, Miriam Bertario, Lucio Pineda Riu, Marta Navarro, Matilde Morak, Monika Frayling, Ian M. Plazzer, John-Paul Sampson, Julian R. Capellá, G. (Gabriel) Möslein, Gabriela Mecklin, Jukka-Pekka Møller, Pål Mallorca Group |
| author |
Seppälä, Toni T. |
| author_facet |
Seppälä, Toni T. Pylvänäinen, Kirsi Evans, D. Gareth Järvinen, Heikki Renkonen Sinisalo, Laura Bernstein, Inge Holinski-Feder, Elke Sala, Paola Lindblom, Annika Macrae, Finlay Blanco, Inlay Sijmons, Rolf H. Jeffries, Jacqueline Vasen, Hans Burn, John Nakken, Sigve Hovig, Eivind Rødland, Einar Andreas Tharmaratnam, Kukatharmini De Vos Tot Nederveen Cappel, Wouter H. Hill, James Wijnen, Juul Jenkins, Mark A. Genuardi, Maurizio Green, Kate Lalloo, Fiona Sunde, Lone Mints, Miriam Bertario, Lucio Pineda Riu, Marta Navarro, Matilde Morak, Monika Frayling, Ian M. Plazzer, John-Paul Sampson, Julian R. Capellá, G. (Gabriel) Möslein, Gabriela Mecklin, Jukka-Pekka Møller, Pål Mallorca Group |
| author_role |
author |
| author2 |
Pylvänäinen, Kirsi Evans, D. Gareth Järvinen, Heikki Renkonen Sinisalo, Laura Bernstein, Inge Holinski-Feder, Elke Sala, Paola Lindblom, Annika Macrae, Finlay Blanco, Inlay Sijmons, Rolf H. Jeffries, Jacqueline Vasen, Hans Burn, John Nakken, Sigve Hovig, Eivind Rødland, Einar Andreas Tharmaratnam, Kukatharmini De Vos Tot Nederveen Cappel, Wouter H. Hill, James Wijnen, Juul Jenkins, Mark A. Genuardi, Maurizio Green, Kate Lalloo, Fiona Sunde, Lone Mints, Miriam Bertario, Lucio Pineda Riu, Marta Navarro, Matilde Morak, Monika Frayling, Ian M. Plazzer, John-Paul Sampson, Julian R. Capellá, G. (Gabriel) Möslein, Gabriela Mecklin, Jukka-Pekka Møller, Pål Mallorca Group |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Càncer colorectal Colonoscòpia Finlàndia Colorectal cancer Colonoscopy Finland |
| topic |
Càncer colorectal Colonoscòpia Finlàndia Colorectal cancer Colonoscopy Finland |
| description |
Background: we have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic MLH1 variants (path_MLH1) despite follow-up with colonoscopy including polypectomy. Methods: the cohort included Finnish carriers enrolled in 3-yearly colonoscopy (n = 505; 4625 observation years) and carriers from other countries enrolled in colonoscopy 2-yearly or more frequently (n = 439; 3299 observation years). We examined whether the longer interval between colonoscopies in Finland could explain the high incidence of CRC and whether disease expression correlated with differences in population CRC incidence. Results: cumulative CRC incidences in carriers of path_MLH1 at 70-years of age were 41% for males and 36% for females in the Finnish series and 58% and 55% in the non-Finnish series, respectively (p > 0.05). Mean time from last colonoscopy to CRC was 32.7 months in the Finnish compared to 31.0 months in the non-Finnish (p > 0.05) and was therefore unaffected by the recommended colonoscopy interval. Differences in population incidence of CRC could not explain the lower point estimates for CRC in the Finnish series. Ten-year overall survival after CRC was similar for the Finnish and non-Finnish series (88% and 91%, respectively; p > 0.05). Conclusions: the hypothesis that the high incidence of CRC in path_MLH1 carriers was caused by a higher incidence in the Finnish series was not valid. We discuss whether the results were influenced by methodological shortcomings in our study or whether the assumption that a shorter interval between colonoscopies leads to a lower CRC incidence may be wrong. This second possibility is intriguing, because it suggests the dogma that CRC in path_MLH1 carriers develops from polyps that can be detected at colonoscopy and removed to prevent CRC may be erroneous. In view of the excellent 10-year overall survival in the Finnish and non-Finnish series we remain strong advocates of current surveillance practices for those with LS pending studies that will inform new recommendations on the best surveillance interval. |
| publishDate |
2017 |
| dc.date.none.fl_str_mv |
2017 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
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article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
https://hdl.handle.net/2445/133001 |
| url |
https://hdl.handle.net/2445/133001 |
| dc.language.none.fl_str_mv |
Inglés |
| language_invalid_str_mv |
Inglés |
| dc.relation.none.fl_str_mv |
Reproducció del document publicat a: https://doi.org/10.1186/s13053-017-0078-5 Hereditary Cancer in Clinical Practice , 2017, vol. 15, num. 18, p. s13053 https://doi.org/10.1186/s13053-017-0078-5 |
| dc.rights.none.fl_str_mv |
cc-by (c) Seppälä, Toni T. et al., 2017 http://creativecommons.org/licenses/by/3.0/es info:eu-repo/semantics/openAccess |
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cc-by (c) Seppälä, Toni T. et al., 2017 http://creativecommons.org/licenses/by/3.0/es |
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openAccess |
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application/pdf |
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BioMed Central |
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BioMed Central |
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Articles publicats en revistes (Ciències Clíniques) reponame:Dipòsit Digital de la UB instname:Universidad de Barcelona |
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Universidad de Barcelona |
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Dipòsit Digital de la UB |
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Dipòsit Digital de la UB |
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1869424085609480192 |
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15,198674 |