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Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

dc.contributor.authorWilcox, N.*
dc.contributor.authorDumont, M.*
dc.contributor.authorGonzález-Neira, A.*
dc.contributor.authorCarvalho, S.*
dc.contributor.authorJoly Beauparlant, C.*
dc.contributor.authorCrotti, M.*
dc.contributor.authorLuccarini, C.*
dc.contributor.authorSoucy, P.*
dc.contributor.authorDubois, S.*
dc.contributor.authorNuñez-Torres, R.*
dc.contributor.authorPita, G.*
dc.contributor.authorGardner, E.J.*
dc.contributor.authorDennis, J.*
dc.contributor.authorAlonso, M.R.*
dc.contributor.authorÁlvarez, N.*
dc.contributor.authorBaynes, C.*
dc.contributor.authorCollin-Deschesnes, A.C.*
dc.contributor.authorDesjardins, S.*
dc.contributor.authorBecher, H.*
dc.contributor.authorBehrens, S.*
dc.contributor.authorBolla, M.K.*
dc.contributor.authorCastelao Fernández, José Esteban *
dc.contributor.authorChang-Claude, J.*
dc.contributor.authorCornelissen, S.*
dc.contributor.authorDörk, T.*
dc.contributor.authorEngel, C.*
dc.contributor.authorGago-Dominguez, M.*
dc.contributor.authorGuénel, P.*
dc.contributor.authorHadjisavvas, A.*
dc.contributor.authorHahnen, E.*
dc.contributor.authorHartman, M.*
dc.contributor.authorHerráez, B.*
dc.contributor.authorTan, B.K.-T.*
dc.contributor.authorTan, V.K.M.*
dc.contributor.authorTan, S.-M.*
dc.contributor.authorLim, G.H.*
dc.contributor.authorTan, E.Y.*
dc.contributor.authorHo, P.J.*
dc.contributor.authorKhng, A.J.*
dc.contributor.authorJung, A.*
dc.contributor.authorKeeman, R.*
dc.contributor.authorKiechle, M.*
dc.contributor.authorLi, J.*
dc.contributor.authorLoizidou, M.A.*
dc.contributor.authorLush, M.*
dc.contributor.authorMichailidou, K.*
dc.contributor.authorPanayiotidis, M.I.*
dc.contributor.authorSim, X.*
dc.contributor.authorTeo, S.H.*
dc.contributor.authorTyrer, J.P.*
dc.contributor.authorvan der Kolk, L.E.*
dc.contributor.authorWahlström, C.*
dc.contributor.authorWang, Q.*
dc.contributor.authorPerry, J.R.B.*
dc.contributor.authorBenitez, J.*
dc.contributor.authorSchmidt, M.K.*
dc.contributor.authorSchmutzler, R.K.*
dc.contributor.authorPharoah, P.D.P.*
dc.contributor.authorDroit, A.*
dc.contributor.authorDunning, A.M.*
dc.contributor.authorKvist, A.*
dc.contributor.authorDevilee, P.*
dc.contributor.authorEaston, D.F.*
dc.contributor.authorSimard, J.*
dc.date.accessioned2025-09-09T11:20:58Z
dc.date.available2025-09-09T11:20:58Z
dc.date.issued2023
dc.identifier.citationWilcox N, Dumont M, González-Neira A, Carvalho S, Joly Beauparlant C, Crotti M, et al. Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk. Nature Genetics. 2023;55(9):1435-9.
dc.identifier.issn1546-1718
dc.identifier.otherhttps://portalcientifico.sergas.gal//documentos/64ec7b67e13d1f2d6d3b701e
dc.identifier.urihttp://hdl.handle.net/20.500.11940/21467
dc.description.abstractLinkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome sequencing datasets, containing 26,368 female cases and 217,673 female controls. Burden tests were performed for protein-truncating and rare missense variants in 15,616 and 18,601 genes, respectively. Associations between protein-truncating variants and breast cancer were identified for the following six genes at exome-wide significance (P < 2.5 × 10?6): the five known susceptibility genes ATM, BRCA1, BRCA2, CHEK2 and PALB2, together with MAP3K1. Associations were also observed for LZTR1, ATR and BARD1 with P < 1 × 10?4. Associations between predicted deleterious rare missense or protein-truncating variants and breast cancer were additionally identified for CDKN2A at exome-wide significance. The overall contribution of coding variants in genes beyond the previously known genes is estimated to be small.
dc.description.sponsorshipSequencing and analysis for this project were funded by the European Union's Horizon 2020 Research and Innovation Program (BRIDGES: grants 634935 to A.G.-N., A.M.D., A.K., P.D. and D.F.E.), the PERSPECTIVE I&I project (funded by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the Ministere de l'Economie et de l'Innovation du Quebec through Genome Quebec, the Quebec Breast Cancer Foundation, Agilent Technologies Canada and Illumina Canada Ulc to J.S.), the Wellcome Trust (grant v203477/Z/16/Z to S.H.T. and D.F.E.) and the Medical Research Council (unit programs MC_UU_12015/2 and MC_UU_00006/2 to S.H.T.). BCAC is funded by the European Union Horizon 2020 Research and Innovation Program (grants 634935 for BRIDGES and 633784 for B-CAST to M.K.S., P.D.P.P. and D.F.E.), the PERSPECTIVE I&I project and via the Confluence project which is funded with intramural funds from the National Cancer Institute Intramural Research Program, National Institutes of Health (to D.F.E.). The funders had no role in the study design, data collection, data analysis, data interpretation or writing of the report. This research has been conducted using the UKB Resource under application number 28126. BCAC study-specific funding is given in the Supplementary Note. N.W. was supported by the International Alliance for Cancer Early Detection, an alliance between Cancer Research UK (C14478/A29329), Canary Center at Stanford University, the University of Cambridge, OHSU Knight Cancer Institute, University College London and the University of Manchester.
dc.languageeng
dc.rightsAttribution 4.0 International (CC BY 4.0)*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subject.meshFemale *
dc.subject.meshHumans *
dc.subject.meshExome Sequencing*
dc.subject.meshExome *
dc.subject.meshMutation, Missense *
dc.subject.meshNeoplasms *
dc.titleExome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
dc.typeArtigo
dc.authorsophosWilcox, N.; Dumont, M.; González-Neira, A.; Carvalho, S.; Joly Beauparlant, C.; Crotti, M.; Luccarini, C.; Soucy, P.; Dubois, S.; Nuñez-Torres, R.; Pita, G.; Gardner, E.J.; Dennis, J.; Alonso, M.R.; Álvarez, N.; Baynes, C.; Collin-Deschesnes, A.C.; Desjardins, S.; Becher, H.; Behrens, S.; Bolla, M.K.; Castelao, J.E.; Chang-Claude, J.; Cornelissen, S.; Dörk, T.; Engel, C.; Gago-Dominguez, M.; Guénel, P.; Hadjisavvas, A.; Hahnen, E.; Hartman, M.; Herráez, B.; Tan, B.K.-T.; Tan, V.K.M.; Tan, S.-M.; Lim, G.H.; Tan, E.Y.; Ho, P.J.; Khng, A.J.; Jung, A.; Keeman, R.; Kiechle, M.; Li, J.; Loizidou, M.A.; Lush, M.; Michailidou, K.; Panayiotidis, M.I.; Sim, X.; Teo, S.H.; Tyrer, J.P.; van der Kolk, L.E.; Wahlström, C.; Wang, Q.; Perry, J.R.B.; Benitez, J.; Schmidt, M.K.; Schmutzler, R.K.; Pharoah, P.D.P.; Droit, A.; Dunning, A.M.; Kvist, A.; Devilee, P.; Easton, D.F.; Simard, J.
dc.identifier.doi10.1038/s41588-023-01466-z
dc.identifier.sophos64ec7b67e13d1f2d6d3b701e
dc.issue.number9
dc.journal.titleNature Genetics*
dc.organizationServizo Galego de Saúde::Áreas Sanitarias (A.S.) - Complexo Hospitalario Universitario de Vigo
dc.page.initial1435
dc.page.final1439
dc.relation.projectIDEuropean Union
dc.relation.projectIDGovernment of Canada through Genome Canada
dc.relation.projectIDCanadian Institutes of Health Research
dc.relation.projectIDMinistere de l'Economie et de l'Innovation du Quebec through Genome Quebec [634935, MC_UU_00006/2]
dc.relation.projectIDQuebec Breast Cancer Foundation, Agilent Technologies Canada and Illumina Canada Ulc
dc.relation.projectIDWellcome Trust
dc.relation.projectIDMedical Research Council
dc.relation.projectIDPERSPECTIVE Iamp
dc.relation.projectIDI project
dc.relation.projectIDNational Cancer Institute Intramural Research Program, National Institutes of Health [633784]
dc.relation.projectIDInternational Alliance for Cancer Early Detection [v203477/Z/16/Z, MC_UU_12015/2]
dc.relation.projectIDCancer Research UK
dc.relation.projectIDCanary Center at Stanford University
dc.relation.projectIDUniversity of Cambridge
dc.relation.projectIDOHSU Knight Cancer Institute [C14478/A29329]
dc.relation.projectIDUniversity College London
dc.relation.projectIDUniversity of Manchester
dc.relation.projectIDMedical Research Council [MC_UU_12015/2] Funding Source: researchfish
dc.relation.projectIDWellcome Trust [203477/Z/16/Z] Funding Source: researchfish
dc.relation.projectIDMRC [MC_UU_12015/2, MC_UU_00006/2] Funding Source: UKRI
dc.relation.publisherversionhttps://doi.org/10.1038/s41588-023-01466-z
dc.rights.accessRightsopenAccess*
dc.subject.keywordAS Vigo
dc.subject.keywordCHUVI
dc.typefidesArtículo Científico (incluye Original, Original breve, Revisión Sistemática y Meta-análisis)
dc.typesophosArtículo Original
dc.volume.number55


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