Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

Seppälä, Toni, Pylvänäinen, Kirsi, Evans, Dafydd Gareth, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paola, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf, 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, Genuardi, Maurizio, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Frayling, Ian M., Plazzer, John-Paul, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Capella, Gabriel, Möslein, Gabriela, Mecklin, Jukka-Pekka and Møller, Pål 2017. Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report. Hereditary Cancer in Clinical Practice 15 , 18. 10.1186/s13053-017-0078-5

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Abstract

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).

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	BioMed Central
ISSN:	1897-4287
Date of First Compliant Deposit:	11 December 2017
Date of Acceptance:	2 October 2017
Last Modified:	07 May 2023 10:13
URI:	https://orca.cardiff.ac.uk/id/eprint/107512

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