Mostrar el registro sencillo del ítem
dc.contributor.author
Dominguez Valentin, Mev
dc.contributor.author
Plazzer, John Paul
dc.contributor.author
Sampson, Julian R.
dc.contributor.author
Engel, Christoph
dc.contributor.author
Aretz, Stefan
dc.contributor.author
Jenkins, Mark A.
dc.contributor.author
Sunde, Lone
dc.contributor.author
Bernstein, Inge
dc.contributor.author
Capella, Gabriel
dc.contributor.author
Balaguer Prunés, Francesc
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.contributor.author
Macrae, Finlay
dc.contributor.author
Winship, Ingrid M.
dc.contributor.author
Thomas, Huw
dc.contributor.author
Evans, Dafydd Gareth
dc.contributor.author
Burn, John
dc.contributor.author
Greenblatt, Marc
dc.contributor.author
de Vos tot Nederveen Cappel, Wouter H.
dc.contributor.author
Sijmons, Rolf H.
dc.contributor.author
Nielsen, Maartje
dc.contributor.author
Bertario, Lucio
dc.contributor.author
Bonanni, Bernardo
dc.contributor.author
Tibiletti, Maria Grazia
dc.contributor.author
Cavestro, Giulia Martina
dc.contributor.author
Lindblom, Annika
dc.contributor.author
Della Valle, Adriana
dc.contributor.author
Lopez Kostner, Francisco
dc.contributor.author
Alvarez, Karin
dc.contributor.author
Gluck, Nathan
dc.contributor.author
Katz, Lior
dc.contributor.author
Heinimann, Karl
dc.contributor.author
Piñero, Tamara Alejandra
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.contributor.author
Pavicic, Walter Hernan
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.date.available
2023-09-19T11:58:49Z
dc.date.issued
2021-06
dc.identifier.citation
Dominguez Valentin, Mev; Plazzer, John Paul; Sampson, Julian R.; Engel, Christoph; Aretz, Stefan; et al.; No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2: A prospective lynch syndrome database study; Multidisciplinary Digital Publishing Institute; Journal of Clinical Medicine; 10; 13; 6-2021; 1-12
dc.identifier.uri
http://hdl.handle.net/11336/211951
dc.description.abstract
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. Methods. Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Multidisciplinary Digital Publishing Institute
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by/2.5/ar/
dc.subject
ABERRANT SPLICING
dc.subject
CANCER INCIDENCE
dc.subject
LYNCH SYNDROME
dc.subject
MISSENSE
dc.subject
MLH1
dc.subject
MSH2
dc.subject
PENETRANCE
dc.subject
TRUNCATING
dc.subject.classification
Oncología
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.subject.classification
Medicina Clínica
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.title
No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2: A prospective lynch syndrome database study
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2023-09-18T13:27:37Z
dc.identifier.eissn
2077-0383
dc.journal.volume
10
dc.journal.number
13
dc.journal.pagination
1-12
dc.journal.pais
Suiza
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.journal.ciudad
Basilea
dc.description.fil
Fil: Dominguez Valentin, Mev. St Mark’s Hospital; Reino Unido. The Norwegian Radium Hospital; Noruega. European Hereditary Tumour Group; Reino Unido
dc.description.fil
Fil: Plazzer, John Paul. St Mark’s Hospital; Reino Unido. The Royal Melbourne Hospital; Australia
dc.description.fil
Fil: Sampson, Julian R.. European Hereditary Tumour Group; Reino Unido. Cardiff University; Reino Unido
dc.description.fil
Fil: Engel, Christoph. European Hereditary Tumour Group; Reino Unido. Universitat Leipzig; Alemania
dc.description.fil
Fil: Aretz, Stefan. Universitat Bonn; Alemania
dc.description.fil
Fil: Jenkins, Mark A.. University of Melbourne; Australia
dc.description.fil
Fil: Sunde, Lone. Aalborg University; Dinamarca
dc.description.fil
Fil: Bernstein, Inge. Aalborg University; Dinamarca
dc.description.fil
Fil: Capella, Gabriel. European Hereditary Tumour Group; Reino Unido. St Mark’s Hospital; Reino Unido. Institut Català d’Oncologia; España
dc.description.fil
Fil: Balaguer Prunés, Francesc. Universidad de Barcelona; España
dc.description.fil
Fil: Macrae, Finlay. European Hereditary Tumour Group; Reino Unido. The Royal Melbourne Hospital; Australia
dc.description.fil
Fil: Winship, Ingrid M.. University of Melbourne; Australia
dc.description.fil
Fil: Thomas, Huw. Imperial College London; Reino Unido
dc.description.fil
Fil: Evans, Dafydd Gareth. University of Manchester; Reino Unido
dc.description.fil
Fil: Burn, John. Universidad de Newcastle; Australia. The Royal Melbourne Hospital; Australia. St Mark’s Hospital; Reino Unido
dc.description.fil
Fil: Greenblatt, Marc. University of Vermont; Estados Unidos
dc.description.fil
Fil: de Vos tot Nederveen Cappel, Wouter H.. Isala Clinics; Países Bajos
dc.description.fil
Fil: Sijmons, Rolf H.. University of Groningen; Países Bajos. St Mark’s Hospital; Reino Unido. European Hereditary Tumour Group; Reino Unido
dc.description.fil
Fil: Nielsen, Maartje. Leids Universitair Medisch Centrum; Países Bajos
dc.description.fil
Fil: Bertario, Lucio. Fondazione IRCCS Istituto Nazionale dei Tumori; Italia
dc.description.fil
Fil: Bonanni, Bernardo. Fondazione IRCCS Istituto Nazionale dei Tumori; Italia
dc.description.fil
Fil: Tibiletti, Maria Grazia. Università dell’Insubria; Italia
dc.description.fil
Fil: Cavestro, Giulia Martina. Vita-Salute San Raffaele University; Italia
dc.description.fil
Fil: Lindblom, Annika. Karolinska Huddinge Hospital; Suecia
dc.description.fil
Fil: Della Valle, Adriana. Hospital Fuerzas Armadas; Uruguay
dc.description.fil
Fil: Lopez Kostner, Francisco. Clínica Universidad de los Andes; Chile
dc.description.fil
Fil: Alvarez, Karin. Clínica Universidad de los Andes; Chile
dc.description.fil
Fil: Gluck, Nathan. Universitat Tel Aviv; Israel
dc.description.fil
Fil: Katz, Lior. Sheba Medical Center; Israel
dc.description.fil
Fil: Heinimann, Karl. University Hospital Basel; Suiza
dc.description.fil
Fil: Piñero, Tamara Alejandra. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Medicina Traslacional e Ingeniería Biomédica - Hospital Italiano. Instituto de Medicina Traslacional e Ingeniería Biomédica.- Instituto Universitario Hospital Italiano de Buenos Aires. Instituto de Medicina Traslacional e Ingeniería Biomédica; Argentina
dc.description.fil
Fil: Pavicic, Walter Hernan. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Medicina Traslacional e Ingeniería Biomédica - Hospital Italiano. Instituto de Medicina Traslacional e Ingeniería Biomédica.- Instituto Universitario Hospital Italiano de Buenos Aires. Instituto de Medicina Traslacional e Ingeniería Biomédica; Argentina
dc.journal.title
Journal of Clinical Medicine
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.mdpi.com/2077-0383/10/13/2856
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.3390/jcm10132856
Archivos asociados