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Title: | Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. |
Author: | 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 A. Vasen, Hans Neffa, Florencia Esperon, Patricia Tjandra, Douglas Möslein, Gabriela Sampson, Julian R. Evans, D. Gareth Seppälä, Toni T. Møller, Pål |
Keywords: | Càncer colorectal Malalties hereditàries Cirurgia ginecològica Colorectal cancer Genetic diseases Gynecologic surgery |
Issue Date: | 1-Dec-2020 |
Publisher: | American College of Medical Genetics and Genomics |
Abstract: | 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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41436-020-01029-1 |
It is part of: | Genetics in Medicine, 2020, vol. 27, num. 4, p. 705-712 |
URI: | http://hdl.handle.net/2445/195173 |
Related resource: | https://doi.org/10.1038/s41436-020-01029-1 |
ISSN: | 1098-3600 |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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