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Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

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Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. / Møller, Pål; Seppälä, Toni; Bernstein, Inge et al.
In: Gut, Vol. 66, No. 3, 01.03.2017, p. 464-472.

Research output: Contribution to Journal/Magazine › Journal article › peer-review

Harvard

Møller, P, Seppälä, T, Bernstein, I, Holinski-Feder, E, Sala, P, Evans, DG, Lindblom, A, Macrae, F, Blanco, I, Sijmons, R, Jeffries, J, Vasen, H, Burn, J, Nakken, S, Hovig, E, Rødland, EA, Tharmaratnam, K, de Vos Tot Nederveen Cappel, WH, Hill, J, Wijnen, J, Green, K, Lalloo, F, Sunde, L, Mints, M, Bertario, L, Pineda, M, Navarro, M, Morak, M, Renkonen-Sinisalo, L, Frayling, IM, Plazzer, J-P, Pylvanainen, K, Sampson, JR, Capella, G, Mecklin, J-P, Möslein, G & Mallorca Group (http://mallorca-group.eu) 2017, 'Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database', Gut, vol. 66, no. 3, pp. 464-472. https://doi.org/10.1136/gutjnl-2015-309675

APA

Møller, P., Seppälä, T., Bernstein, I., Holinski-Feder, E., Sala, P., Evans, D. G., Lindblom, A., Macrae, F., Blanco, I., Sijmons, R., Jeffries, J., Vasen, H., Burn, J., Nakken, S., Hovig, E., Rødland, E. A., Tharmaratnam, K., de Vos Tot Nederveen Cappel, W. H., Hill, J., ... Mallorca Group (http://mallorca-group.eu) (2017). Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut, 66(3), 464-472. https://doi.org/10.1136/gutjnl-2015-309675

Vancouver

Møller P, Seppälä T, Bernstein I, Holinski-Feder E, Sala P, Evans DG et al. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut. 2017 Mar 1;66(3):464-472. Epub 2015 Dec 9. doi: 10.1136/gutjnl-2015-309675

Author

Møller, Pål ; Seppälä, Toni ; Bernstein, Inge et al. / Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance : first report from the prospective Lynch syndrome database. In: Gut. 2017 ; Vol. 66, No. 3. pp. 464-472.

Bibtex

@article{037e3cf7e3484c89af927fbd92c4ab05,
title = "Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database",
abstract = "OBJECTIVE: Estimates of cancer risk and the effects of surveillance in Lynch syndrome have been subject to bias, partly through reliance on retrospective studies. We sought to establish more robust estimates in patients undergoing prospective cancer surveillance.DESIGN: We undertook a multicentre study of patients carrying Lynch syndrome-associated mutations affecting MLH1, MSH2, MSH6 or PMS2. Standardised information on surveillance, cancers and outcomes were collated in an Oracle relational database and analysed by age, sex and mutated gene.RESULTS: 1942 mutation carriers without previous cancer had follow-up including colonoscopic surveillance for 13 782 observation years. 314 patients developed cancer, mostly colorectal (n=151), endometrial (n=72) and ovarian (n=19). Cancers were detected from 25 years onwards in MLH1 and MSH2 mutation carriers, and from about 40 years in MSH6 and PMS2 carriers. Among first cancer detected in each patient the colorectal cancer cumulative incidences at 70 years by gene were 46%, 35%, 20% and 10% for MLH1, MSH2, MSH6 and PMS2 mutation carriers, respectively. The equivalent cumulative incidences for endometrial cancer were 34%, 51%, 49% and 24%; and for ovarian cancer 11%, 15%, 0% and 0%. Ten-year crude survival was 87% after any cancer, 91% if the first cancer was colorectal, 98% if endometrial and 89% if ovarian.CONCLUSIONS: The four Lynch syndrome-associated genes had different penetrance and expression. Colorectal cancer occurred frequently despite colonoscopic surveillance but resulted in few deaths. Using our data, a website has been established at http://LScarisk.org enabling calculation of cumulative cancer risks as an aid to genetic counselling in Lynch syndrome.",
author = "P{\aa}l M{\o}ller and Toni Sepp{\"a}l{\"a} and Inge Bernstein and Elke Holinski-Feder and Paola Sala and Evans, {D. Gareth} and Annika Lindblom and Finlay Macrae and Ignacio Blanco and Rolf Sijmons and Jacqueline Jeffries and Hans Vasen and John Burn and Sigve Nakken and Eivind Hovig and R{\o}dland, {Einar Andreas} and Kukatharmini Tharmaratnam and {de Vos Tot Nederveen Cappel}, {Wouter H.} and James Hill and Juul Wijnen and Kate Green and Fiona Lalloo and Lone Sunde and Miriam Mints and Lucio Bertario and Marta Pineda and Matilde Navarro and Monika Morak and Laura Renkonen-Sinisalo and Frayling, {Ian M.} and John-Paul Plazzer and Kirsi Pylvanainen and Sampson, {Julian R.} and Gabriel Capella and Jukka-Pekka Mecklin and Gabriela M{\"o}slein and {Mallorca Group (http://mallorca-group.eu)}",
note = "Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/",
year = "2017",
month = mar,
day = "1",
doi = "10.1136/gutjnl-2015-309675",
language = "English",
volume = "66",
pages = "464--472",
journal = "Gut",
issn = "0017-5749",
publisher = "BMJ Publishing Group",
number = "3",

}

RIS

TY - JOUR

T1 - Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance

T2 - first report from the prospective Lynch syndrome database

AU - Møller, Pål

AU - Seppälä, Toni

AU - Bernstein, Inge

AU - Holinski-Feder, Elke

AU - Sala, Paola

AU - Evans, D. Gareth

AU - Lindblom, Annika

AU - Macrae, Finlay

AU - Blanco, Ignacio

AU - Sijmons, Rolf

AU - Jeffries, Jacqueline

AU - Vasen, Hans

AU - Burn, John

AU - Nakken, Sigve

AU - Hovig, Eivind

AU - Rødland, Einar Andreas

AU - Tharmaratnam, Kukatharmini

AU - de Vos Tot Nederveen Cappel, Wouter H.

AU - Hill, James

AU - Wijnen, Juul

AU - Green, Kate

AU - Lalloo, Fiona

AU - Sunde, Lone

AU - Mints, Miriam

AU - Bertario, Lucio

AU - Pineda, Marta

AU - Navarro, Matilde

AU - Morak, Monika

AU - Renkonen-Sinisalo, Laura

AU - Frayling, Ian M.

AU - Plazzer, John-Paul

AU - Pylvanainen, Kirsi

AU - Sampson, Julian R.

AU - Capella, Gabriel

AU - Mecklin, Jukka-Pekka

AU - Möslein, Gabriela

AU - Mallorca Group (http://mallorca-group.eu)

N1 - Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

PY - 2017/3/1

Y1 - 2017/3/1

N2 - OBJECTIVE: Estimates of cancer risk and the effects of surveillance in Lynch syndrome have been subject to bias, partly through reliance on retrospective studies. We sought to establish more robust estimates in patients undergoing prospective cancer surveillance.DESIGN: We undertook a multicentre study of patients carrying Lynch syndrome-associated mutations affecting MLH1, MSH2, MSH6 or PMS2. Standardised information on surveillance, cancers and outcomes were collated in an Oracle relational database and analysed by age, sex and mutated gene.RESULTS: 1942 mutation carriers without previous cancer had follow-up including colonoscopic surveillance for 13 782 observation years. 314 patients developed cancer, mostly colorectal (n=151), endometrial (n=72) and ovarian (n=19). Cancers were detected from 25 years onwards in MLH1 and MSH2 mutation carriers, and from about 40 years in MSH6 and PMS2 carriers. Among first cancer detected in each patient the colorectal cancer cumulative incidences at 70 years by gene were 46%, 35%, 20% and 10% for MLH1, MSH2, MSH6 and PMS2 mutation carriers, respectively. The equivalent cumulative incidences for endometrial cancer were 34%, 51%, 49% and 24%; and for ovarian cancer 11%, 15%, 0% and 0%. Ten-year crude survival was 87% after any cancer, 91% if the first cancer was colorectal, 98% if endometrial and 89% if ovarian.CONCLUSIONS: The four Lynch syndrome-associated genes had different penetrance and expression. Colorectal cancer occurred frequently despite colonoscopic surveillance but resulted in few deaths. Using our data, a website has been established at http://LScarisk.org enabling calculation of cumulative cancer risks as an aid to genetic counselling in Lynch syndrome.

AB - OBJECTIVE: Estimates of cancer risk and the effects of surveillance in Lynch syndrome have been subject to bias, partly through reliance on retrospective studies. We sought to establish more robust estimates in patients undergoing prospective cancer surveillance.DESIGN: We undertook a multicentre study of patients carrying Lynch syndrome-associated mutations affecting MLH1, MSH2, MSH6 or PMS2. Standardised information on surveillance, cancers and outcomes were collated in an Oracle relational database and analysed by age, sex and mutated gene.RESULTS: 1942 mutation carriers without previous cancer had follow-up including colonoscopic surveillance for 13 782 observation years. 314 patients developed cancer, mostly colorectal (n=151), endometrial (n=72) and ovarian (n=19). Cancers were detected from 25 years onwards in MLH1 and MSH2 mutation carriers, and from about 40 years in MSH6 and PMS2 carriers. Among first cancer detected in each patient the colorectal cancer cumulative incidences at 70 years by gene were 46%, 35%, 20% and 10% for MLH1, MSH2, MSH6 and PMS2 mutation carriers, respectively. The equivalent cumulative incidences for endometrial cancer were 34%, 51%, 49% and 24%; and for ovarian cancer 11%, 15%, 0% and 0%. Ten-year crude survival was 87% after any cancer, 91% if the first cancer was colorectal, 98% if endometrial and 89% if ovarian.CONCLUSIONS: The four Lynch syndrome-associated genes had different penetrance and expression. Colorectal cancer occurred frequently despite colonoscopic surveillance but resulted in few deaths. Using our data, a website has been established at http://LScarisk.org enabling calculation of cumulative cancer risks as an aid to genetic counselling in Lynch syndrome.

U2 - 10.1136/gutjnl-2015-309675

DO - 10.1136/gutjnl-2015-309675

M3 - Journal article

C2 - 26657901

VL - 66

SP - 464

EP - 472

JO - Gut

JF - Gut

SN - 0017-5749

IS - 3

ER -