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oai:recercat.cat:2445/1778252025-12-05T13:08:15Zcom_2072_1057col_2072_478798col_2072_478916col_2072_478917

urn:hdl:2445/177825 Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report Seppälä, Toni T. Dominguez Valentin, Mev Crosbie, Emma J. Engel, Christoph Aretz, Stefan Macrae, Finlay Winship, Ingrid Capellá, G. (Gabriel) Thomas, Huw Hovig, Eivind Nielsen, Maartje Sijmons, Rolf H. Bertario, Lucio Bonanni, Bernardo Tibiletti, Maria G. 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 García, Matilde Vida, Joan B. Kariv, Revital Rosner, Guy Piñero, Tamara Alejandra Pavicic, Walter Hernán Kalfayan, Pablo 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 Redler, Silke Weitz, Jürgen Pylvänäinen, Kirsi Renkonen Sinisalo, Laura Lepistö, Anna Hopper, John L. Win, Aung K. Lindor, Noralane M. Gallinger, Steven Le Marchand, Loïc Newcomb, Polly A. Figueiredo, Jane C. Thibodeau, Stephen N. Therkildsen, Christina Wadt, Karin A.W. Mourits, Marian J.E. Ketabi, Zohreh Denton, Oliver G. Rødland, Einar Andreas Vasen, Hans Neffa, Florencia Esperon, Patricia Tjandra, Douglas Möslein, Gabriela Sampson, Julian R. Rokkones, Erik Evans, D. Gareth Møller, Pål Càncer d'ovari Càncer d'endometri Mortalitat Ovarian cancer Endometrial cancer Mortality Purpose: This study aimed to report the uptake of hysterectomy and/or bilateral salpingo-oophorectomy (BSO) to prevent gynaecological cancers (risk-reducing surgery [RRS]) in carriers of pathogenic MMR (path_MMR) variants. Methods: The Prospective Lynch Syndrome Database (PLSD) was used to investigate RRS by a cross-sectional study in 2292 female path_MMR carriers aged 30e69 years. Results: Overall, 144, 79, and 517 carriers underwent risk-reducing hysterectomy, BSO, or both combined, respectively. Two-thirds of procedures before 50 years of age were combined hysterectomy and BSO, and 81% of all procedures included BSO. Risk-reducing hysterectomy was performed before age 50 years in 28%, 25%, 15%, and 9%, and BSO in 26%, 25%, 14% and 13% of path_MLH1, path_MSH2, path_MSH6, and path_PMS2 carriers, respectively. Before 50 years of age, 107 of 188 (57%) BSO and 126 of 204 (62%) hysterectomies were performed in women without any prior cancer, and only 5% (20/392) were performed simultaneously with colorectal cancer (CRC) surgery. Conclusion: Uptake of RRS before 50 years of age was low, and RRS was rarely undertaken in association with surgical treatment of CRC. Uptake of RRS aligned poorly with gene- and age-associated risk estimates for endometrial or ovarian cancer that were published recently from PLSD and did not correspond well with current clinical guidelines. The reasons should be clarified. Decision-making on opting for or against RRS and its timing should be better aligned with predicted risk and mortality for endometrial and ovarian cancer in Lynch syn- drome to improve outcomes. 2021-05-31T12:39:35Z 2021-05-31T12:39:35Z 2021-03-17 2021-05-31T12:39:35Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Reproducció del document publicat a: https://doi.org/10.1016/j.ejca.2021.02.022 European Journal of Cancer, 2021, vol. 148, p. 124-133 https://doi.org/10.1016/j.ejca.2021.02.022 cc-by-nc-nd (c) Seppälä, Toni T. et al., 2021 https://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess Elsevier B.V. Articles publicats en revistes (Ciències Clíniques)