Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Autor: 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
Přispěvatelé: 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
Jazyk: angličtina
Rok vydání: 2021
Předmět:
0301 basic medicine
medicine.medical_treatment
DNA Mismatch Repair
Gynecologic surgery
0302 clinical medicine
Malalties hereditàries
Prospective Studies
Prospective cohort study
Genetics (clinical)
Mismatch Repair Endonuclease PMS2
Incidence (epidemiology)
Middle Aged
16. Peace & justice
Lynch syndrome
3. Good health
030220 oncology & carcinogenesis
Female
syöpätaudit
MutL Protein Homolog 1
Genetic diseases
Heterozygote
medicine.medical_specialty
Salpingo-oophorectomy
Cirurgia ginecològica
Hysterectomy
Article
03 medical and health sciences
Càncer colorectal
CAPP2
medicine
Humans
Lynchin oireyhtymä
Gynecology
perinnölliset taudit
HEREDITARY COLORECTAL-CANCER
business.industry
Endometrial cancer
Cancer
medicine.disease
Colorectal Neoplasms
Hereditary Nonpolyposis
Colorectal cancer
ASPIRIN
030104 developmental biology
Clinical research
3121 General medicine
internal medicine and other clinical medicine
kohdunpoisto
3111 Biomedicine
Ovarian cancer
business
Zdroj: 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
ISSN: 1098-3600
Popis: 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.
Databáze: OpenAIRE
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