Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.

Dominguez Valentin, Mev; Crosbie, Emma J.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capellá, G. (Gabriel); Thomas, Huw; Nakken, Sigve; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H.; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauß, Hans Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda Riu, Marta; Navarro, Matilde; Brunet, Joan; Kariv, Revital; Rosner, Guy; Piñero, Tamara Alejandra; González, María Laura; Kalfayan, Pablo; Ryan, Neil A. J.; Ten Broeke, Sanne W.; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; de Vos Tot Nederveen Cappel, Wouter H.; Della Valle, Adriana; Lopez Kostner, Francisco; Alvarez Valenzuela, Karin; Büttner, Reinhard; Görgens, Heike; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Weitz, Jürgen; Pylvänäinen, Kirsi; Renkonen Sinisalo, Laura; Lepistö, Anna; Auranen, Annika; Hopper, John L.; Ko Win, Aung; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Denton, Oliver G.; Rødland, Einar Andreas; Vasen, Hans; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Möslein, Gabriela; Sampson, Julian R.; Evans, D. Gareth; Seppälä, Toni T.; Møller, Pål

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.

Purpose: To determine impact of risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) on gynecological cancer incidence and death in heterozygotes of pathogenic MMR (path_MMR) variants. Methods: The Prospective Lynch Syndrome Database was used to investigate the effects of gynecologic...

Descripción completa

Detalles Bibliográficos
Autores:	Dominguez Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capellá, G. (Gabriel), Thomas, Huw, Nakken, Sigve, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauß, Hans Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda Riu, Marta, Navarro, Matilde, Brunet, Joan, Kariv, Revital, Rosner, Guy, Piñero, Tamara Alejandra, González, María Laura, Kalfayan, Pablo, Ryan, Neil A. J., Ten Broeke, Sanne W., Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, de Vos Tot Nederveen Cappel, Wouter H., Della Valle, Adriana, Lopez Kostner, Francisco, Alvarez Valenzuela, Karin, Büttner, Reinhard, Görgens, Heike, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Weitz, Jürgen, Pylvänäinen, Kirsi, Renkonen Sinisalo, Laura, Lepistö, Anna, Auranen, Annika, Hopper, John L., Ko Win, Aung, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Denton, Oliver G., Rødland, Einar Andreas, Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Sampson, Julian R., Evans, D. Gareth, Seppälä, Toni T., Møller, Pål
Tipo de recurso:	artículo
Estado:	Versión publicada
Fecha de publicación:	2020
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:2445/195173
Acceso en línea:	https://hdl.handle.net/2445/195173
Access Level:	acceso abierto
Palabra clave:	Càncer colorectal Malalties hereditàries Cirurgia ginecològica Colorectal cancer Genetic diseases Gynecologic surgery

id	ES_8a0d8040f012b7db5bee47e52fe71bd2
oai_identifier_str	oai:recercat.cat:2445/195173
network_acronym_str	ES
network_name_str	España
repository_id_str
spelling	Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.Dominguez Valentin, MevCrosbie, Emma J.Engel, ChristophAretz, StefanMacrae, FinlayWinship, IngridCapellá, G. (Gabriel)Thomas, HuwNakken, SigveHovig, EivindNielsen, MaartjeSijmons, Rolf H.Bertario, LucioBonanni, BernardoTibiletti, Maria GraziaCavestro, Giulia MartinaMints, MiriamGluck, NathanKatz, LiorHeinimann, KarlVaccaro, Carlos A.Green, KateLalloo, FionaHill, JamesSchmiegel, WolffVangala, DeepakPerne, ClaudiaStrauß, Hans GeorgTecklenburg, JohannaHolinski-Feder, ElkeSteinke-Lange, VerenaMecklin, Jukka-PekkaPlazzer, John-PaulPineda Riu, MartaNavarro, MatildeBrunet, JoanKariv, RevitalRosner, GuyPiñero, Tamara AlejandraGonzález, María LauraKalfayan, PabloRyan, Neil A. J.Ten Broeke, Sanne W.Jenkins, Mark A.Sunde, LoneBernstein, IngeBurn, JohnGreenblatt, Marcde Vos Tot Nederveen Cappel, Wouter H.Della Valle, AdrianaLopez Kostner, FranciscoAlvarez Valenzuela, KarinBüttner, ReinhardGörgens, HeikeMorak, MonikaHolzapfel, StefanieHüneburg, Robertvon Knebel Doeberitz, MagnusLoeffler, MarkusRahner, NilsWeitz, JürgenPylvänäinen, KirsiRenkonen Sinisalo, LauraLepistö, AnnaAuranen, AnnikaHopper, John L.Ko Win, AungHaile, Robert W.Lindor, Noralane M.Gallinger, StevenLe Marchand, LoïcNewcomb, Polly A.Figueiredo, Jane C.Thibodeau, Stephen N.Therkildsen, ChristinaOkkels, HenrikKetabi, ZohrehDenton, Oliver G.Rødland, Einar AndreasVasen, HansNeffa, FlorenciaEsperon, PatriciaTjandra, DouglasMöslein, GabrielaSampson, Julian R.Evans, D. GarethSeppälä, Toni T.Møller, PålCàncer colorectalMalalties hereditàriesCirurgia ginecològicaColorectal cancerGenetic diseasesGynecologic surgeryPurpose: To determine impact of risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) on gynecological cancer incidence and death in heterozygotes of pathogenic MMR (path_MMR) variants. Methods: The Prospective Lynch Syndrome Database was used to investigate the effects of gynecological risk-reducing surgery (RRS) at different ages. Results: Risk-reducing hysterectomy at 25 years of age prevents endometrial cancer before 50 years in 15%, 18%, 13%, and 0% of path_MLH1, path_MSH2, path_MSH6, and path_PMS2 heterozygotes and death in 2%, 2%, 1%, and 0%, respectively. Risk-reducing BSO at 25 years of age prevents ovarian cancer before 50 years in 6%, 11%, 2%, and 0% and death in 1%, 2%, 0%, and 0%, respectively. Risk-reducing hysterectomy at 40 years prevents endometrial cancer by 50 years in 13%, 16%, 11%, and 0% and death in 1%, 2%, 1%, and 0%, respectively. BSO at 40 years prevents ovarian cancer before 50 years in 4%, 8%, 0%, and 0%, and death in 1%, 1%, 0%, and 0%, respectively. Conclusion: Little benefit is gained by performing RRS before 40 years of age and premenopausal BSO in path_MSH6 and path_PMS2 heterozygotes has no measurable benefit for mortality. These findings may aid decision making for women with LS who are considering RRS.American College of Medical Genetics and Genomics2023202320202023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion8 p.application/pdfapplication/pdfhttps://hdl.handle.net/2445/195173Articles publicats en revistes (Ciències Clíniques)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1038/s41436-020-01029-1Genetics in Medicine, 2020, vol. 27, num. 4, p. 705-712https://doi.org/10.1038/s41436-020-01029-1cc by (c) Dominguez Valentin, Mev et al., 2020https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1951732026-05-29T05:05:01Z
dc.title.none.fl_str_mv	Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
title	Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
spellingShingle	Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. Dominguez Valentin, Mev Càncer colorectal Malalties hereditàries Cirurgia ginecològica Colorectal cancer Genetic diseases Gynecologic surgery
title_short	Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
title_full	Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
title_fullStr	Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
title_full_unstemmed	Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
title_sort	Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
dc.creator.none.fl_str_mv	Dominguez Valentin, Mev Crosbie, Emma J. Engel, Christoph Aretz, Stefan Macrae, Finlay Winship, Ingrid Capellá, G. (Gabriel) Thomas, Huw Nakken, Sigve Hovig, Eivind Nielsen, Maartje Sijmons, Rolf H. Bertario, Lucio Bonanni, Bernardo Tibiletti, Maria Grazia Cavestro, Giulia Martina Mints, Miriam Gluck, Nathan Katz, Lior Heinimann, Karl Vaccaro, Carlos A. Green, Kate Lalloo, Fiona Hill, James Schmiegel, Wolff Vangala, Deepak Perne, Claudia Strauß, Hans Georg Tecklenburg, Johanna Holinski-Feder, Elke Steinke-Lange, Verena Mecklin, Jukka-Pekka Plazzer, John-Paul Pineda Riu, Marta Navarro, Matilde Brunet, Joan Kariv, Revital Rosner, Guy Piñero, Tamara Alejandra González, María Laura Kalfayan, Pablo Ryan, Neil A. J. Ten Broeke, Sanne W. Jenkins, Mark A. Sunde, Lone Bernstein, Inge Burn, John Greenblatt, Marc de Vos Tot Nederveen Cappel, Wouter H. Della Valle, Adriana Lopez Kostner, Francisco Alvarez Valenzuela, Karin Büttner, Reinhard Görgens, Heike Morak, Monika Holzapfel, Stefanie Hüneburg, Robert von Knebel Doeberitz, Magnus Loeffler, Markus Rahner, Nils Weitz, Jürgen Pylvänäinen, Kirsi Renkonen Sinisalo, Laura Lepistö, Anna Auranen, Annika Hopper, John L. Ko Win, Aung Haile, Robert W. Lindor, Noralane M. Gallinger, Steven Le Marchand, Loïc Newcomb, Polly A. Figueiredo, Jane C. Thibodeau, Stephen N. Therkildsen, Christina Okkels, Henrik Ketabi, Zohreh Denton, Oliver G. Rødland, Einar Andreas Vasen, Hans Neffa, Florencia Esperon, Patricia Tjandra, Douglas Möslein, Gabriela Sampson, Julian R. Evans, D. Gareth Seppälä, Toni T. Møller, Pål
author	Dominguez Valentin, Mev
author_facet	Dominguez Valentin, Mev Crosbie, Emma J. Engel, Christoph Aretz, Stefan Macrae, Finlay Winship, Ingrid Capellá, G. (Gabriel) Thomas, Huw Nakken, Sigve Hovig, Eivind Nielsen, Maartje Sijmons, Rolf H. Bertario, Lucio Bonanni, Bernardo Tibiletti, Maria Grazia Cavestro, Giulia Martina Mints, Miriam Gluck, Nathan Katz, Lior Heinimann, Karl Vaccaro, Carlos A. Green, Kate Lalloo, Fiona Hill, James Schmiegel, Wolff Vangala, Deepak Perne, Claudia Strauß, Hans Georg Tecklenburg, Johanna Holinski-Feder, Elke Steinke-Lange, Verena Mecklin, Jukka-Pekka Plazzer, John-Paul Pineda Riu, Marta Navarro, Matilde Brunet, Joan Kariv, Revital Rosner, Guy Piñero, Tamara Alejandra González, María Laura Kalfayan, Pablo Ryan, Neil A. J. Ten Broeke, Sanne W. Jenkins, Mark A. Sunde, Lone Bernstein, Inge Burn, John Greenblatt, Marc de Vos Tot Nederveen Cappel, Wouter H. Della Valle, Adriana Lopez Kostner, Francisco Alvarez Valenzuela, Karin Büttner, Reinhard Görgens, Heike Morak, Monika Holzapfel, Stefanie Hüneburg, Robert von Knebel Doeberitz, Magnus Loeffler, Markus Rahner, Nils Weitz, Jürgen Pylvänäinen, Kirsi Renkonen Sinisalo, Laura Lepistö, Anna Auranen, Annika Hopper, John L. Ko Win, Aung Haile, Robert W. Lindor, Noralane M. Gallinger, Steven Le Marchand, Loïc Newcomb, Polly A. Figueiredo, Jane C. Thibodeau, Stephen N. Therkildsen, Christina Okkels, Henrik Ketabi, Zohreh Denton, Oliver G. Rødland, Einar Andreas Vasen, Hans Neffa, Florencia Esperon, Patricia Tjandra, Douglas Möslein, Gabriela Sampson, Julian R. Evans, D. Gareth Seppälä, Toni T. Møller, Pål
author_role	author
author2	Crosbie, Emma J. Engel, Christoph Aretz, Stefan Macrae, Finlay Winship, Ingrid Capellá, G. (Gabriel) Thomas, Huw Nakken, Sigve Hovig, Eivind Nielsen, Maartje Sijmons, Rolf H. Bertario, Lucio Bonanni, Bernardo Tibiletti, Maria Grazia Cavestro, Giulia Martina Mints, Miriam Gluck, Nathan Katz, Lior Heinimann, Karl Vaccaro, Carlos A. Green, Kate Lalloo, Fiona Hill, James Schmiegel, Wolff Vangala, Deepak Perne, Claudia Strauß, Hans Georg Tecklenburg, Johanna Holinski-Feder, Elke Steinke-Lange, Verena Mecklin, Jukka-Pekka Plazzer, John-Paul Pineda Riu, Marta Navarro, Matilde Brunet, Joan Kariv, Revital Rosner, Guy Piñero, Tamara Alejandra González, María Laura Kalfayan, Pablo Ryan, Neil A. J. Ten Broeke, Sanne W. Jenkins, Mark A. Sunde, Lone Bernstein, Inge Burn, John Greenblatt, Marc de Vos Tot Nederveen Cappel, Wouter H. Della Valle, Adriana Lopez Kostner, Francisco Alvarez Valenzuela, Karin Büttner, Reinhard Görgens, Heike Morak, Monika Holzapfel, Stefanie Hüneburg, Robert von Knebel Doeberitz, Magnus Loeffler, Markus Rahner, Nils Weitz, Jürgen Pylvänäinen, Kirsi Renkonen Sinisalo, Laura Lepistö, Anna Auranen, Annika Hopper, John L. Ko Win, Aung Haile, Robert W. Lindor, Noralane M. Gallinger, Steven Le Marchand, Loïc Newcomb, Polly A. Figueiredo, Jane C. Thibodeau, Stephen N. Therkildsen, Christina Okkels, Henrik Ketabi, Zohreh Denton, Oliver G. Rødland, Einar Andreas Vasen, Hans Neffa, Florencia Esperon, Patricia Tjandra, Douglas Möslein, Gabriela Sampson, Julian R. Evans, D. Gareth Seppälä, Toni T. Møller, Pål
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 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 author author author author author author author author author
dc.subject.none.fl_str_mv	Càncer colorectal Malalties hereditàries Cirurgia ginecològica Colorectal cancer Genetic diseases Gynecologic surgery
topic	Càncer colorectal Malalties hereditàries Cirurgia ginecològica Colorectal cancer Genetic diseases Gynecologic surgery
description	Purpose: To determine impact of risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) on gynecological cancer incidence and death in heterozygotes of pathogenic MMR (path_MMR) variants. Methods: The Prospective Lynch Syndrome Database was used to investigate the effects of gynecological risk-reducing surgery (RRS) at different ages. Results: Risk-reducing hysterectomy at 25 years of age prevents endometrial cancer before 50 years in 15%, 18%, 13%, and 0% of path_MLH1, path_MSH2, path_MSH6, and path_PMS2 heterozygotes and death in 2%, 2%, 1%, and 0%, respectively. Risk-reducing BSO at 25 years of age prevents ovarian cancer before 50 years in 6%, 11%, 2%, and 0% and death in 1%, 2%, 0%, and 0%, respectively. Risk-reducing hysterectomy at 40 years prevents endometrial cancer by 50 years in 13%, 16%, 11%, and 0% and death in 1%, 2%, 1%, and 0%, respectively. BSO at 40 years prevents ovarian cancer before 50 years in 4%, 8%, 0%, and 0%, and death in 1%, 1%, 0%, and 0%, respectively. Conclusion: Little benefit is gained by performing RRS before 40 years of age and premenopausal BSO in path_MSH6 and path_PMS2 heterozygotes has no measurable benefit for mortality. These findings may aid decision making for women with LS who are considering RRS.
publishDate	2020
dc.date.none.fl_str_mv	2020 2023 2023 2023
dc.type.none.fl_str_mv	info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion
format	article
status_str	publishedVersion
dc.identifier.none.fl_str_mv	https://hdl.handle.net/2445/195173
url	https://hdl.handle.net/2445/195173
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/10.1038/s41436-020-01029-1 Genetics in Medicine, 2020, vol. 27, num. 4, p. 705-712 https://doi.org/10.1038/s41436-020-01029-1
dc.rights.none.fl_str_mv	cc by (c) Dominguez Valentin, Mev et al., 2020 https://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess
rights_invalid_str_mv	cc by (c) Dominguez Valentin, Mev et al., 2020 https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	8 p. application/pdf application/pdf
dc.publisher.none.fl_str_mv	American College of Medical Genetics and Genomics
publisher.none.fl_str_mv	American College of Medical Genetics and Genomics
dc.source.none.fl_str_mv	Articles publicats en revistes (Ciències Clíniques) reponame:Recercat. Dipósit de la Recerca de Catalunya instname: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)
reponame_str	Recercat. Dipósit de la Recerca de Catalunya
collection	Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_	1869412672360939520
score	15,811543

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.

Similares en LA Referencia