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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

Articolo
Data di Pubblicazione:
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.
Tipologia CRIS:
1.1 Articolo in rivista
Elenco autori:
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.
Autori di Ateneo:
CAVESTRO GIULIA MARTINA
Link alla scheda completa:
https://iris.unisr.it/handle/20.500.11768/108145
Pubblicato in:
GENETICS IN MEDICINE
Journal
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