Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.
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 stu...
| Autores: | ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; |
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| Tipo de documento: | Artículo |
| Estado: | Accepted version |
| Fecha de publicación: | 2017 |
| País: | España |
| Institución: | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| Repositorio: | Recercat. Dipósit de la Recerca de Catalunya |
| OAI Identifier: | oai:recercat.cat:2445/226969 |
| Acceso en línea: | https://hdl.handle.net/2445/226969 |
| Nivel de acceso: | Acceso abierto |
| Palabra clave: | Càncer Cancer |
| _version_ | 1878740876071534592 |
|---|---|
| author | Møller, Pal |
| author2 | Seppälä, Toni T. Bernstein, Inge Holinski-Feder, Elke Sala, Paola Evans, D. Gareth Lindblom, Annika Macrae, Finlay Blanco, Ignacio 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 Green, Kate Lalloo, Fiona Sunde, Lone Mints, Miriam Bertario, Lucio Pineda Riu, Marta Navarro, Matilde Morak, Monika Renkonen-Sinisalo, Laura Frayling, Ian M. Plazzer, John Paul Pylvänäinen, Kirsi Sampson, Julian R. Capellá, G. (Gabriel) Mecklin, Jukka Pekka Möslein, Gabriela 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_browse | Bernstein, Inge Bertario, Lucio Blanco, Ignacio Burn, John Capellá, G. (Gabriel) Evans, D. Gareth Frayling, Ian M. Green, Kate Hill, James Holinski-Feder, Elke Hovig, Eivind Jeffries, Jacqueline Lalloo, Fiona Lindblom, Annika Macrae, Finlay Mallorca Group Mecklin, Jukka Pekka Mints, Miriam Morak, Monika Möslein, Gabriela Møller, Pal Nakken, Sigve Navarro, Matilde Pineda Riu, Marta Plazzer, John Paul Pylvänäinen, Kirsi Renkonen-Sinisalo, Laura Rødland, Einar Andreas Sala, Paola Sampson, Julian R. Seppälä, Toni T. Sijmons, Rolf H. Sunde, Lone Tharmaratnam, Kukatharmini Vasen, Hans Wijnen, Juul de Vos Tot Nederveen Cappel, Wouter H. |
| author_facet | Møller, Pal Seppälä, Toni T. Bernstein, Inge Holinski-Feder, Elke Sala, Paola Evans, D. Gareth Lindblom, Annika Macrae, Finlay Blanco, Ignacio 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 Green, Kate Lalloo, Fiona Sunde, Lone Mints, Miriam Bertario, Lucio Pineda Riu, Marta Navarro, Matilde Morak, Monika Renkonen-Sinisalo, Laura Frayling, Ian M. Plazzer, John Paul Pylvänäinen, Kirsi Sampson, Julian R. Capellá, G. (Gabriel) Mecklin, Jukka Pekka Möslein, Gabriela Mallorca Group |
| author_role | author |
| collection | Recercat. Dipósit de la Recerca de Catalunya |
| description | 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. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | ES_daf95a5f227ba4c55e9fbe002bfb5977 |
| institution | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| instname_str | Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| network_acronym_str | ES |
| network_name_str | España |
| oai_identifier_str | oai:recercat.cat:2445/226969 |
| publishDate | 2017 |
| publishDateSort | 2017 |
| publisher | BMJ Publishing Group |
| publisherStr | BMJ Publishing Group |
| reponame_str | Recercat. Dipósit de la Recerca de Catalunya |
| spelling | Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Møller, Pal Seppälä, Toni T. Bernstein, Inge Holinski-Feder, Elke Sala, Paola Evans, D. Gareth Lindblom, Annika Macrae, Finlay Blanco, Ignacio 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 Green, Kate Lalloo, Fiona Sunde, Lone Mints, Miriam Bertario, Lucio Pineda Riu, Marta Navarro, Matilde Morak, Monika Renkonen-Sinisalo, Laura Frayling, Ian M. Plazzer, John Paul Pylvänäinen, Kirsi Sampson, Julian R. Capellá, G. (Gabriel) Mecklin, Jukka Pekka Möslein, Gabriela Mallorca Group Càncer Cancer 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. BMJ Publishing Group https://hdl.handle.net/2445/226969 |
| spellingShingle | Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Møller, Pal Càncer Cancer |
| status_str | acceptedVersion |
| title | Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. |
| title_full | Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. |
| title_fullStr | Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. |
| title_full_unstemmed | Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. |
| title_short | Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. |
| title_sort | Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. |
| topic | Càncer Cancer |
| topic_facet | Càncer Cancer |
| url | https://hdl.handle.net/2445/226969 |