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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

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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. / Dominguez-Valentin, Mev; Crosbie, Emma J.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, 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, Marta; Navarro, Matilde; Brunet Vidal, Joan; Kariv, Revital; Rosner, Guy; Alejandra Pinero, Tamara; Laura Gonzalez, Maria; Kalfayan, Pablo; Ryan, Neil; Ten Broeke, Sanne W.; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; Cappel, Wouter H. de Vos tot Nederveen; Della Valle, Adriana; Lopez-Koestner, Francisco; Alvarez, Karin; Buettner, Reinhard; Goergens, Heike; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Doeberitz, Magnus von Knebel; Loeffler, Markus; Rahner, Nils; Weitz, Jurgen; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Auranen, Annika; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Denton, Oliver G.; Rodland, Einar Andreas; Vasen, Hans; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Moeslein, Gabriela; Sampson, Julian R.; Evans, D. Gareth; Seppala, Toni T.; Moller, Pal.

I: Genetics in Medicine, Bind 23, Nr. 4, 04.2021, s. 705-712.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

Harvard

Dominguez-Valentin, M, Crosbie, EJ, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Nakken, S, Hovig, E, Nielsen, M, Sijmons, RH, Bertario, L, Bonanni, B, Tibiletti, MG, Cavestro, GM, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, CA, 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, SW, Jenkins, MA, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, Cappel, WHDVTN, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Buettner, R, Goergens, H, Morak, M, Holzapfel, S, Hueneburg, R, Doeberitz, MVK, Loeffler, M, Rahner, N, Weitz, J, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Auranen, A, Hopper, JL, Win, AK, Haile, RW, Lindor, NM, Gallinger, S, Le Marchand, L, Newcomb, PA, Figueiredo, JC, Thibodeau, SN, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, OG, Rodland, EA, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Moeslein, G, Sampson, JR, Evans, DG, Seppala, TT & 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, bind 23, nr. 4, s. 705-712. https://doi.org/10.1038/s41436-020-01029-1

APA

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., ... 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, 23(4), 705-712. https://doi.org/10.1038/s41436-020-01029-1

CBE

Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Nakken S, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, 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 SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, Cappel WHDVTN, Della Valle A, Lopez-Koestner F, Alvarez K, Buettner R, Goergens H, Morak M, Holzapfel S, Hueneburg R, Doeberitz MVK, Loeffler M, Rahner N, Weitz J, Pylvanainen K, Renkonen-Sinisalo L, Lepisto A, Auranen A, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Okkels H, Ketabi Z, Denton OG, Rodland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Moeslein G, Sampson JR, Evans DG, Seppala TT, 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. 23(4):705-712. https://doi.org/10.1038/s41436-020-01029-1

MLA

Vancouver

Author

Dominguez-Valentin, Mev ; Crosbie, Emma J. ; Engel, Christoph ; Aretz, Stefan ; Macrae, Finlay ; Winship, Ingrid ; Capella, 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, Marta ; Navarro, Matilde ; Brunet Vidal, Joan ; Kariv, Revital ; Rosner, Guy ; Alejandra Pinero, Tamara ; Laura Gonzalez, Maria ; Kalfayan, Pablo ; Ryan, Neil ; Ten Broeke, Sanne W. ; Jenkins, Mark A. ; Sunde, Lone ; Bernstein, Inge ; Burn, John ; Greenblatt, Marc ; Cappel, Wouter H. de Vos tot Nederveen ; Della Valle, Adriana ; Lopez-Koestner, Francisco ; Alvarez, Karin ; Buettner, Reinhard ; Goergens, Heike ; Morak, Monika ; Holzapfel, Stefanie ; Hueneburg, Robert ; Doeberitz, Magnus von Knebel ; Loeffler, Markus ; Rahner, Nils ; Weitz, Jurgen ; Pylvanainen, Kirsi ; Renkonen-Sinisalo, Laura ; Lepisto, Anna ; Auranen, Annika ; Hopper, John L. ; Win, Aung Ko ; Haile, Robert W. ; Lindor, Noralane M. ; Gallinger, Steven ; Le Marchand, Loic ; Newcomb, Polly A. ; Figueiredo, Jane C. ; Thibodeau, Stephen N. ; Therkildsen, Christina ; Okkels, Henrik ; Ketabi, Zohreh ; Denton, Oliver G. ; Rodland, Einar Andreas ; Vasen, Hans ; Neffa, Florencia ; Esperon, Patricia ; Tjandra, Douglas ; Moeslein, Gabriela ; Sampson, Julian R. ; Evans, D. Gareth ; Seppala, Toni T. ; Moller, Pal. / Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report. I: Genetics in Medicine. 2021 ; Bind 23, Nr. 4. s. 705-712.

Bibtex

@article{483e1a5efd604d7aae6b905fdab1c3cd,
title = "Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report",
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.",
keywords = "HEREDITARY COLORECTAL-CANCER, ASPIRIN, CAPP2",
author = "Mev Dominguez-Valentin and Crosbie, {Emma J.} and Christoph Engel and Stefan Aretz and Finlay Macrae and Ingrid Winship and Gabriel Capella and Huw Thomas and Sigve Nakken and Eivind Hovig and Maartje Nielsen and Sijmons, {Rolf H.} and Lucio Bertario and Bernardo Bonanni and Tibiletti, {Maria Grazia} and Cavestro, {Giulia Martina} and Miriam Mints and Nathan Gluck and Lior Katz and Karl Heinimann and Vaccaro, {Carlos A.} and Kate Green and Fiona Lalloo and James Hill and Wolff Schmiegel and Deepak Vangala and Claudia Perne and Hans-Georg Strauss and Johanna Tecklenburg and Elke Holinski-Feder and Verena Steinke-Lange and Jukka-Pekka Mecklin and John-Paul Plazzer and Marta Pineda and Matilde Navarro and {Brunet Vidal}, Joan and Revital Kariv and Guy Rosner and {Alejandra Pinero}, Tamara and {Laura Gonzalez}, Maria and Pablo Kalfayan and Neil Ryan and {Ten Broeke}, {Sanne W.} and Jenkins, {Mark A.} and Lone Sunde and Inge Bernstein and John Burn and Marc Greenblatt and Cappel, {Wouter H. de Vos tot Nederveen} and {Della Valle}, Adriana and Francisco Lopez-Koestner and Karin Alvarez and Reinhard Buettner and Heike Goergens and Monika Morak and Stefanie Holzapfel and Robert Hueneburg and Doeberitz, {Magnus von Knebel} and Markus Loeffler and Nils Rahner and Jurgen Weitz and Kirsi Pylvanainen and Laura Renkonen-Sinisalo and Anna Lepisto and Annika Auranen and Hopper, {John L.} and Win, {Aung Ko} and Haile, {Robert W.} and Lindor, {Noralane M.} and Steven Gallinger and {Le Marchand}, Loic and Newcomb, {Polly A.} and Figueiredo, {Jane C.} and Thibodeau, {Stephen N.} and Christina Therkildsen and Henrik Okkels and Zohreh Ketabi and Denton, {Oliver G.} and Rodland, {Einar Andreas} and Hans Vasen and Florencia Neffa and Patricia Esperon and Douglas Tjandra and Gabriela Moeslein and Sampson, {Julian R.} and Evans, {D. Gareth} and Seppala, {Toni T.} and Pal Moller",
year = "2021",
month = apr,
doi = "10.1038/s41436-020-01029-1",
language = "English",
volume = "23",
pages = "705--712",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Nature Publishing Group",
number = "4",

}

RIS

TY - JOUR

T1 - Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants

T2 - a Prospective Lynch Syndrome Database report

AU - Dominguez-Valentin, Mev

AU - Crosbie, Emma J.

AU - Engel, Christoph

AU - Aretz, Stefan

AU - Macrae, Finlay

AU - Winship, Ingrid

AU - Capella, Gabriel

AU - Thomas, Huw

AU - Nakken, Sigve

AU - Hovig, Eivind

AU - Nielsen, Maartje

AU - Sijmons, Rolf H.

AU - Bertario, Lucio

AU - Bonanni, Bernardo

AU - Tibiletti, Maria Grazia

AU - Cavestro, Giulia Martina

AU - Mints, Miriam

AU - Gluck, Nathan

AU - Katz, Lior

AU - Heinimann, Karl

AU - Vaccaro, Carlos A.

AU - Green, Kate

AU - Lalloo, Fiona

AU - Hill, James

AU - Schmiegel, Wolff

AU - Vangala, Deepak

AU - Perne, Claudia

AU - Strauss, Hans-Georg

AU - Tecklenburg, Johanna

AU - Holinski-Feder, Elke

AU - Steinke-Lange, Verena

AU - Mecklin, Jukka-Pekka

AU - Plazzer, John-Paul

AU - Pineda, Marta

AU - Navarro, Matilde

AU - Brunet Vidal, Joan

AU - Kariv, Revital

AU - Rosner, Guy

AU - Alejandra Pinero, Tamara

AU - Laura Gonzalez, Maria

AU - Kalfayan, Pablo

AU - Ryan, Neil

AU - Ten Broeke, Sanne W.

AU - Jenkins, Mark A.

AU - Sunde, Lone

AU - Bernstein, Inge

AU - Burn, John

AU - Greenblatt, Marc

AU - Cappel, Wouter H. de Vos tot Nederveen

AU - Della Valle, Adriana

AU - Lopez-Koestner, Francisco

AU - Alvarez, Karin

AU - Buettner, Reinhard

AU - Goergens, Heike

AU - Morak, Monika

AU - Holzapfel, Stefanie

AU - Hueneburg, Robert

AU - Doeberitz, Magnus von Knebel

AU - Loeffler, Markus

AU - Rahner, Nils

AU - Weitz, Jurgen

AU - Pylvanainen, Kirsi

AU - Renkonen-Sinisalo, Laura

AU - Lepisto, Anna

AU - Auranen, Annika

AU - Hopper, John L.

AU - Win, Aung Ko

AU - Haile, Robert W.

AU - Lindor, Noralane M.

AU - Gallinger, Steven

AU - Le Marchand, Loic

AU - Newcomb, Polly A.

AU - Figueiredo, Jane C.

AU - Thibodeau, Stephen N.

AU - Therkildsen, Christina

AU - Okkels, Henrik

AU - Ketabi, Zohreh

AU - Denton, Oliver G.

AU - Rodland, Einar Andreas

AU - Vasen, Hans

AU - Neffa, Florencia

AU - Esperon, Patricia

AU - Tjandra, Douglas

AU - Moeslein, Gabriela

AU - Sampson, Julian R.

AU - Evans, D. Gareth

AU - Seppala, Toni T.

AU - Moller, Pal

PY - 2021/4

Y1 - 2021/4

N2 - 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.

AB - 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.

KW - HEREDITARY COLORECTAL-CANCER

KW - ASPIRIN

KW - CAPP2

U2 - 10.1038/s41436-020-01029-1

DO - 10.1038/s41436-020-01029-1

M3 - Journal article

C2 - 33257847

VL - 23

SP - 705

EP - 712

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 4

ER -