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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 gynecol...

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Hauptverfasser: Dominguez-Valentin, Mev (VerfasserIn) , Crosbie, Emma J. (VerfasserIn) , Engel, Christoph (VerfasserIn) , Aretz, Stefan (VerfasserIn) , Macrae, Finlay (VerfasserIn) , Winship, Ingrid (VerfasserIn) , Capellá, Gabriel (VerfasserIn) , Thomas, Huw (VerfasserIn) , Nakken, Sigve (VerfasserIn) , Hovig, Eivind (VerfasserIn) , Nielsen, Maartje (VerfasserIn) , Sijmons, Rolf H. (VerfasserIn) , Bertario, Lucio (VerfasserIn) , Bonanni, Bernardo (VerfasserIn) , Tibiletti, Maria Grazia (VerfasserIn) , Cavestro, Giulia Martina (VerfasserIn) , Mints, Miriam (VerfasserIn) , Gluck, Nathan (VerfasserIn) , Katz, Lior (VerfasserIn) , Heinimann, Karl (VerfasserIn) , Vaccaro, Carlos A. (VerfasserIn) , Green, Kate (VerfasserIn) , Lalloo, Fiona (VerfasserIn) , Hill, James (VerfasserIn) , Schmiegel, Wolff-Helmut (VerfasserIn) , Vangala, Deepak (VerfasserIn) , Perne, Claudia (VerfasserIn) , Strauß, Hans-Georg (VerfasserIn) , Tecklenburg, Johanna (VerfasserIn) , Holinski-Feder, Elke (VerfasserIn) , Steinke, Verena (VerfasserIn) , Mecklin, Jukka-Pekka (VerfasserIn) , Plazzer, John-Paul (VerfasserIn) , Pineda, Marta (VerfasserIn) , Navarro, Matilde (VerfasserIn) , Vidal, Joan Brunet (VerfasserIn) , Kariv, Revital (VerfasserIn) , Rosner, Guy (VerfasserIn) , Piñero, Tamara Alejandra (VerfasserIn) , Gonzalez, María Laura (VerfasserIn) , Kalfayan, Pablo (VerfasserIn) , Ryan, Neil (VerfasserIn) , Ten Broeke, Sanne W. (VerfasserIn) , Jenkins, Mark A. (VerfasserIn) , Sunde, Lone (VerfasserIn) , Bernstein, Inge (VerfasserIn) , Burn, John (VerfasserIn) , Greenblatt, Marc (VerfasserIn) , de Vos tot Nederveen Cappel, Wouter H. (VerfasserIn) , Della Valle, Adriana (VerfasserIn) , Lopez-Koestner, Francisco (VerfasserIn) , Alvarez, Karin (VerfasserIn) , Büttner, Reinhard (VerfasserIn) , Görgens, Heike (VerfasserIn) , Morak, Monika (VerfasserIn) , Holzapfel, Stefanie (VerfasserIn) , Hüneburg, Robert (VerfasserIn) , Knebel Doeberitz, Magnus von (VerfasserIn) , Loeffler, Markus (VerfasserIn) , Rahner, Nils (VerfasserIn) , Weitz, Jürgen (VerfasserIn) , Pylvänäinen, Kirsi (VerfasserIn) , Renkonen-Sinisalo, Laura (VerfasserIn) , Lepistö, Anna (VerfasserIn) , Auranen, Annika (VerfasserIn) , Hopper, John L. (VerfasserIn) , Win, Aung Ko (VerfasserIn) , Haile, Robert W. (VerfasserIn) , Lindor, Noralane M. (VerfasserIn) , Gallinger, Steven (VerfasserIn) , Le Marchand, Loïc (VerfasserIn) , Newcomb, Polly A. (VerfasserIn) , Figueiredo, Jane C. (VerfasserIn) , Thibodeau, Stephen N. (VerfasserIn) , Therkildsen, Christina (VerfasserIn) , Okkels, Henrik (VerfasserIn) , Ketabi, Zohreh (VerfasserIn) , Denton, Oliver G. (VerfasserIn) , Rødland, Einar Andreas (VerfasserIn) , Vasen, Hans (VerfasserIn) , Neffa, Florencia (VerfasserIn) , Esperon, Patricia (VerfasserIn) , Tjandra, Douglas (VerfasserIn) , Möslein, Gabriela (VerfasserIn) , Sampson, Julian R. (VerfasserIn) , Evans, D. Gareth (VerfasserIn) , Seppälä, Toni T. (VerfasserIn) , Møller, Pål (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: April 2021
In: Genetics in medicine
Year: 2021, Jahrgang: 23, Heft: 4, Pages: 705-712
ISSN:1530-0366
DOI:10.1038/s41436-020-01029-1
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/s41436-020-01029-1
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1098360021024485
Volltext
Verfasserangaben:Mev Dominguez-Valentin, Emma J. Crosbie, Christoph Engel, Stefan Aretz, Finlay Macrae, Ingrid Winship, Gabriel Capella, Huw Thomas, Sigve Nakken, Eivind Hovig, Maartje Nielsen, Rolf H. Sijmons, Lucio Bertario, Bernardo Bonanni, Maria Grazia Tibiletti, Giulia Martina Cavestro, Miriam Mints, Nathan Gluck, Lior Katz, Karl Heinimann, Carlos A. Vaccaro, Kate Green, Fiona Lalloo, James Hill, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Hans-Georg Strauß, Johanna Tecklenburg, Elke Holinski-Feder, Verena Steinke-Lange, Jukka-Pekka Mecklin, John-Paul Plazzer, Marta Pineda, Matilde Navarro, Joan Brunet Vidal, Revital Kariv, Guy Rosner, Tamara Alejandra Piñero, María Laura Gonzalez, Pablo Kalfayan, Neil Ryan, Sanne W. ten Broeke, Mark A. Jenkins, Lone Sunde, Inge Bernstein, John Burn, Marc Greenblatt, Wouter H. de Vos tot Nederveen Cappel, Adriana Della Valle, Francisco Lopez-Koestner, Karin Alvarez, Reinhard Büttner, Heike Görgens, Monika Morak, Stefanie Holzapfel, Robert Hüneburg, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Jürgen Weitz, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Annika Auranen, John L. Hopper, Aung Ko Win, Robert W. Haile, Noralane M. Lindor, Steven Gallinger, Loïc Le Marchand, Polly A. Newcomb, Jane C. Figueiredo, Stephen N. Thibodeau, Christina Therkildsen, Henrik Okkels, Zohreh Ketabi, Oliver G. Denton, Einar Andreas Rødland, Hans Vasen, Florencia Neffa, Patricia Esperon, Douglas Tjandra, Gabriela Möslein, Julian R. Sampson, D. Gareth Evans, Toni T. Seppälä, Pål Møller

MARC

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245 1 0 |a Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants  |b a Prospective Lynch Syndrome Database report  |c Mev Dominguez-Valentin, Emma J. Crosbie, Christoph Engel, Stefan Aretz, Finlay Macrae, Ingrid Winship, Gabriel Capella, Huw Thomas, Sigve Nakken, Eivind Hovig, Maartje Nielsen, Rolf H. Sijmons, Lucio Bertario, Bernardo Bonanni, Maria Grazia Tibiletti, Giulia Martina Cavestro, Miriam Mints, Nathan Gluck, Lior Katz, Karl Heinimann, Carlos A. Vaccaro, Kate Green, Fiona Lalloo, James Hill, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Hans-Georg Strauß, Johanna Tecklenburg, Elke Holinski-Feder, Verena Steinke-Lange, Jukka-Pekka Mecklin, John-Paul Plazzer, Marta Pineda, Matilde Navarro, Joan Brunet Vidal, Revital Kariv, Guy Rosner, Tamara Alejandra Piñero, María Laura Gonzalez, Pablo Kalfayan, Neil Ryan, Sanne W. ten Broeke, Mark A. Jenkins, Lone Sunde, Inge Bernstein, John Burn, Marc Greenblatt, Wouter H. de Vos tot Nederveen Cappel, Adriana Della Valle, Francisco Lopez-Koestner, Karin Alvarez, Reinhard Büttner, Heike Görgens, Monika Morak, Stefanie Holzapfel, Robert Hüneburg, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Jürgen Weitz, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Annika Auranen, John L. Hopper, Aung Ko Win, Robert W. Haile, Noralane M. Lindor, Steven Gallinger, Loïc Le Marchand, Polly A. Newcomb, Jane C. Figueiredo, Stephen N. Thibodeau, Christina Therkildsen, Henrik Okkels, Zohreh Ketabi, Oliver G. Denton, Einar Andreas Rødland, Hans Vasen, Florencia Neffa, Patricia Esperon, Douglas Tjandra, Gabriela Möslein, Julian R. Sampson, D. Gareth Evans, Toni T. Seppälä, Pål Møller 
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520 |a 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. 
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SRT |a DOMINGUEZVRISKREDUCI2021 

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