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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

Authors :
Eivind Hovig
Bernardo Bonanni
Monika Morak
Mark A. Jenkins
Patricia Esperon
Toni T. Seppälä
Lone Sunde
Pablo Kalfayan
Gabriel Capellá
Inge Bernstein
Matilde Navarro
Marc S. Greenblatt
John Burn
Zohreh Ketabi
Johanna Tecklenburg
Francisco Lopez-Koestner
Miriam Mints
Heike Görgens
Neil A J Ryan
Kate Green
Annika Auranen
Douglas Tjandra
Robert W. Haile
Marta Pineda
Tamara Alejandra Piñero
Stefan Aretz
Robert Hüneburg
Verena Steinke-Lange
Markus Loeffler
Christina Therkildsen
John L. Hopper
Deepak Vangala
Huw Thomas
Reinhard Büttner
James Hill
Einar Andreas Rødland
Revital Kariv
Maria Grazia Tibiletti
Sigve Nakken
Stefanie Holzapfel
D. Gareth Evans
Oliver G. Denton
Julian R. Sampson
Henrik Okkels
Joan Vidal
Loic Le Marchand
Hans Georg Strauß
Gabriela Möslein
Claudia Perne
Ingrid Winship
Nathan Gluck
Jane C. Figueiredo
Mev Dominguez-Valentin
Wolff Schmiegel
Karl Heinimann
Kirsi Pylvänäinen
Karin Alvarez
Maartje Nielsen
Wouter H. de Vos tot Nederveen Cappel
Fiona Lalloo
Aung Ko Win
Guy Rosner
Carlos A. Vaccaro
Polly A. Newcomb
Elke Holinski-Feder
John-Paul Plazzer
Lior H. Katz
Christoph Engel
Anna Lepistö
Jukka-Pekka Mecklin
Giulia Martina Cavestro
Adriana Della Valle
Finlay A. Macrae
Sanne W. ten Broeke
Florencia Neffa
Rolf H. Sijmons
María Laura Gonzalez
Nils Rahner
Jürgen Weitz
Hans F. A. Vasen
Stephen N. Thibodeau
Emma J Crosbie
Lucio Bertario
Steven Gallinger
Noralane M. Lindor
Pål Møller
Laura Renkonen-Sinisalo
Magnus von Knebel Doeberitz
Dominguez-Valentin, M.
Crosbie, E. J.
Engel, C.
Aretz, S.
Macrae, F.
Winship, I.
Capella, G.
Thomas, H.
Nakken, S.
Hovig, E.
Nielsen, M.
Sijmons, R. H.
Bertario, L.
Bonanni, B.
Tibiletti, M. G.
Cavestro, G. M.
Mints, M.
Gluck, N.
Katz, L.
Heinimann, K.
Vaccaro, C. A.
Green, K.
Lalloo, F.
Hill, J.
Schmiegel, W.
Vangala, D.
Perne, C.
Strauss, H. -G.
Tecklenburg, J.
Holinski-Feder, E.
Steinke-Lange, V.
Mecklin, J. -P.
Plazzer, J. -P.
Pineda, M.
Navarro, M.
Vidal, J. B.
Kariv, R.
Rosner, G.
Pinero, T. A.
Gonzalez, M. L.
Kalfayan, P.
Ryan, N.
ten Broeke, S. W.
Jenkins, M. A.
Sunde, L.
Bernstein, I.
Burn, J.
Greenblatt, M.
de Vos tot Nederveen Cappel, W. H.
Della Valle, A.
Lopez-Koestner, F.
Alvarez, K.
Buttner, R.
Gorgens, H.
Morak, M.
Holzapfel, S.
Huneburg, R.
von Knebel Doeberitz, M.
Loeffler, M.
Rahner, N.
Weitz, J.
Pylvanainen, K.
Renkonen-Sinisalo, L.
Lepisto, A.
Auranen, A.
Hopper, J. L.
Win, A. K.
Haile, R. W.
Lindor, N. M.
Gallinger, S.
Le Marchand, L.
Newcomb, P. A.
Figueiredo, J. C.
Thibodeau, S. N.
Therkildsen, C.
Okkels, H.
Ketabi, Z.
Denton, O. G.
Rodland, E. A.
Vasen, H.
Neffa, F.
Esperon, P.
Tjandra, D.
Moslein, G.
Sampson, J. R.
Evans, D. G.
Seppala, T. T.
Moller, P.
ATG - Applied Tumor Genomics
HUS Abdominal Center
II kirurgian klinikka
Department of Surgery
Clinicum
Helsinki University Hospital Area
University of Helsinki
Source :
Genetics in Medicine, 23(4), 705-712. Nature Publishing Group, Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauss, H-G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J-P, Plazzer, J-P, Pineda, M, Navarro, M, Brunet Vidal, J, Kariv, R, Rosner, G, Alejandra Pinero, T, Laura Gonzalez, M, Kalfayan, P, Ryan, N, Ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, Cappel, W H D V T N, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Buettner, R, Goergens, H, Morak, M, Holzapfel, S, Hueneburg, R, Doeberitz, M V K, Loeffler, M, Rahner, N, Weitz, J, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rodland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Moeslein, G, Sampson, J R, Evans, D G, Seppala, T T & Moller, P 2021, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in Medicine, vol. 23, no. 4, pp. 705-712 . https://doi.org/10.1038/s41436-020-01029-1, Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauß, H G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J P, Plazzer, J P, Pineda, M, Navarro, M, Vidal, J B, Kariv, R, Rosner, G, Piñero, T A, Gonzalez, M L, Kalfayan, P, Ryan, N, ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, de Vos tot Nederveen Cappel, W H, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Büttner, R, Görgens, H, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rødland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Sampson, J R, Evans, D G, Seppälä, T T & Møller, P 2021, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in Medicine, vol. 23, no. 4, pp. 705–712 . https://doi.org/10.1038/s41436-020-01029-1, Genetics in Medicine, 23(4), 705-712. SPRINGERNATURE, Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauß, H-G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J-P, Plazzer, J-P, Pineda, M, Navarro, M, Vidal, J B, Kariv, R, Rosner, G, Piñero, T A, Kalfayan, P, Ryan, N, Ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, de Vos Tot Nederveen Cappel, W H, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Büttner, R, Görgens, H, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rødland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Sampson, J R, Evans, D G, Seppälä, T T & Møller, P 2020, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01029-1, Genetics in Medicine
Publication Year :
2021

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.

Details

Language :
English
ISSN :
10983600
Database :
OpenAIRE
Journal :
Genetics in Medicine, 23(4), 705-712. Nature Publishing Group, Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauss, H-G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J-P, Plazzer, J-P, Pineda, M, Navarro, M, Brunet Vidal, J, Kariv, R, Rosner, G, Alejandra Pinero, T, Laura Gonzalez, M, Kalfayan, P, Ryan, N, Ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, Cappel, W H D V T N, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Buettner, R, Goergens, H, Morak, M, Holzapfel, S, Hueneburg, R, Doeberitz, M V K, Loeffler, M, Rahner, N, Weitz, J, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rodland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Moeslein, G, Sampson, J R, Evans, D G, Seppala, T T & Moller, P 2021, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in Medicine, vol. 23, no. 4, pp. 705-712 . https://doi.org/10.1038/s41436-020-01029-1, Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauß, H G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J P, Plazzer, J P, Pineda, M, Navarro, M, Vidal, J B, Kariv, R, Rosner, G, Piñero, T A, Gonzalez, M L, Kalfayan, P, Ryan, N, ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, de Vos tot Nederveen Cappel, W H, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Büttner, R, Görgens, H, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rødland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Sampson, J R, Evans, D G, Seppälä, T T & Møller, P 2021, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in Medicine, vol. 23, no. 4, pp. 705–712 . https://doi.org/10.1038/s41436-020-01029-1, Genetics in Medicine, 23(4), 705-712. SPRINGERNATURE, Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauß, H-G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J-P, Plazzer, J-P, Pineda, M, Navarro, M, Vidal, J B, Kariv, R, Rosner, G, Piñero, T A, Kalfayan, P, Ryan, N, Ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, de Vos Tot Nederveen Cappel, W H, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Büttner, R, Görgens, H, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rødland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Sampson, J R, Evans, D G, Seppälä, T T & Møller, P 2020, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01029-1, Genetics in Medicine
Accession number :
edsair.doi.dedup.....dd9330a31f26a8ad6f652222a369c04f