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dc.contributor.authorGlubb, Dylan M
dc.contributor.authorJohnatty, Sharon E
dc.contributor.authorQuinn, Michael C J
dc.contributor.authorO'Mara, Tracy A
dc.contributor.authorTyrer, Jonathan P
dc.contributor.authorGao, Bo
dc.contributor.authorFasching, Peter A
dc.contributor.authorBeckmann, Matthias W
dc.contributor.authorLambrechts, Diether
dc.contributor.authorVergote, Ignace
dc.contributor.authorVelez Edwards, Digna R
dc.contributor.authorBeeghly-Fadiel, Alicia
dc.contributor.authorBenitez, Javier 
dc.contributor.authorGarcia, Maria J
dc.contributor.authorGoodman, Marc T
dc.contributor.authorThompson, Pamela J
dc.contributor.authorDörk, Thilo
dc.contributor.authorDürst, Matthias
dc.contributor.authorModungo, Francesmary
dc.contributor.authorMoysich, Kirsten
dc.contributor.authorHeitz, Florian
dc.contributor.authordu Bois, Andreas
dc.contributor.authorPfisterer, Jacobus
dc.contributor.authorHillemanns, Peter
dc.contributor.authorKarlan, Beth Y
dc.contributor.authorLester, Jenny
dc.contributor.authorGoode, Ellen L
dc.contributor.authorCunningham, Julie M
dc.contributor.authorWinham, Stacey J
dc.contributor.authorLarson, Melissa C
dc.contributor.authorMcCauley, Bryan M
dc.contributor.authorKjær, Susanne Krüger
dc.contributor.authorJensen, Allan
dc.contributor.authorSchildkraut, Joellen M
dc.contributor.authorBerchuck, Andrew
dc.contributor.authorCramer, Daniel W
dc.contributor.authorTerry, Kathryn L
dc.contributor.authorSalvesen, Helga B
dc.contributor.authorBjorge, Line
dc.contributor.authorWebb, Penny M
dc.contributor.authorGrant, Peter
dc.contributor.authorPejovic, Tanja
dc.contributor.authorMoffitt, Melissa
dc.contributor.authorHogdall, Claus K
dc.contributor.authorHogdall, Estrid
dc.contributor.authorPaul, James
dc.contributor.authorGlasspool, Rosalind
dc.contributor.authorBernardini, Marcus
dc.contributor.authorTone, Alicia
dc.contributor.authorHuntsman, David
dc.contributor.authorWoo, Michelle
dc.contributor.authorGroup, Aocs
dc.contributor.authordeFazio, Anna
dc.contributor.authorKennedy, Catherine J
dc.contributor.authorPharoah, Paul D P
dc.contributor.authorMacGregor, Stuart
dc.contributor.authorChenevix-Trench, Georgia
dc.date.accessioned2019-03-14T11:38:35Z
dc.date.available2019-03-14T11:38:35Z
dc.date.issued2017-09-12
dc.identifier.citationOncotarget. 2017;8(39):64670-64684es_ES
dc.identifier.issn1949-2553es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/7331
dc.description.abstractWe previously identified associations with ovarian cancer outcome at five genetic loci. To identify putatively causal genetic variants and target genes, we prioritized two ovarian outcome loci (1q22 and 19p12) for further study. Bioinformatic and functional genetic analyses indicated that MEF2D and ZNF100 are targets of candidate outcome variants at 1q22 and 19p12, respectively. At 19p12, the chromatin interaction of a putative regulatory element with the ZNF100 promoter region correlated with candidate outcome variants. At 1q22, putative regulatory elements enhanced MEF2D promoter activity and haplotypes containing candidate outcome variants modulated these effects. In a public dataset, MEF2D and ZNF100 expression were both associated with ovarian cancer progression-free or overall survival time. In an extended set of 6,162 epithelial ovarian cancer patients, we found that functional candidates at the 1q22 and 19p12 loci, as well as other regional variants, were nominally associated with patient outcome; however, no associations reached our threshold for statistical significance (p<1×10-5). Larger patient numbers will be needed to convincingly identify any true associations at these loci.es_ES
dc.description.sponsorshipThis study would not have been possible without the contributions of the following: Per Hall (COGS); Douglas F. Easton, Paul Pharoah, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang (BCAC), Andrew Berchuck (OCAC), Rosalind A. Eeles, Douglas F. Easton, Ali Amin Al Olama, Zsofia Kote-Jarai, Sara Benlloch (PRACTICAL), Georgia Chenevix-Trench, Antonis Antoniou, Lesley McGuffog, Fergus Couch and Ken Offit (CIMBA), Joe Dennis, Alison M. Dunning, Andrew Lee, and Ed Dicks, Craig Luccarini and the staff of the Centre for Genetic Epidemiology Laboratory, Javier Benitez, Anna Gonzalez- Neira and the staff of the CNIO genotyping unit, Jacques Simard and Daniel C. Tessier, Francois Bacot, Daniel Vincent, Sylvie LaBoissière and Frederic Robidoux and the staff of the McGill University and Génome Québec Innovation Centre, Stig E. Bojesen, Sune F. Nielsen, Borge G. Nordestgaard, and the staff of the Copenhagen DNA laboratory, and Julie M. Cunningham, Sharon A. Windebank, Christopher A. Hilker, Jeffrey Meyer and the staff of Mayo Clinic Genotyping Core Facility. The OncoArray collaboration arose, in part, through the efforts of the Genetic Associations and Mechanisms in Oncology (GAME-ON, http://epi.grants.cancer.gov/ gameon/) consortium, which was a multi-year project to characterize SNP associations for common cancers and to understand their mechanistic and functional consequences in disease development. We wish to pay tribute to the contribution of Professor Brian Henderson to the GAMEON consortium. We are grateful to the family and friends of Kathryn Sladek Smith for their generous support for the Ovarian Cancer Association Consortium through their donations to the Ovarian Cancer Research Fund. The authors wish to thank Margie Riggan for her tireless dedication to the Ovarian Cancer Association Consortium through her excellent project and data management. We thank study participants, doctors, nurses, clinical and scientific collaborators, health care providers and health information sources who have contributed to the following specific studies; the Australian Ovarian Cancer Study (AOCS) www.impactjournals.com/oncotarget 64682 Oncotarget Management Group (D. Bowtell, G. Chenevix-Trench, A. deFazio, D. Gertig, A. Green, P. Webb) and ACS Investigators (A. Green, P. Parsons, N. Hayward, P. Webb, D. Whiteman) thank all the clinical and scientific collaborators (see http://www.aocstudy.org/) and the women for their contribution. The Belgian study (BEL) would like to thank Gilian Peuteman, Thomas Van Brussel and Dominiek Smeets for technical assistance. WMH thank the members of the Gynaecological Oncology Biobank (GynBiobank) at Westmead. The International Collaborative Ovarian Neoplasm study (ICON)7 trial team would like to thank the Medical Research Council (MRC) Clinical Trial Unit (CTU) at the University of London (UCL), the ICON7 Translational Research Sub-group, and the University of Leeds for their work on the coordination of samples and data from the ICON7 trial. The Mayo Clinic Ovarian Cancer Case- Control Study (MAY) thank C. Hilker, S. Windebank, and J. Vollenweider for iSelect genotyping. The Scottish Randomised Trial in Ovarian Cancer (SRO) thank all members of Scottish Gynaecological Clinical Trails group and SCOTROC1 investigators. The results published here are in part based upon data generated by The Cancer Genome Atlas Pilot Project established by the National Cancer Institute and National Human Genome Research Institute. Information about TCGA can be found at http:// cancergenome.nih.gov/.es_ES
dc.language.isoenges_ES
dc.publisherImpact Journals es_ES
dc.type.hasVersionVoRes_ES
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectGene regulationes_ES
dc.subjectGenetic associationes_ES
dc.subjectMeta-analysises_ES
dc.subjectOvarian cancer outcomees_ES
dc.subject.meshTCF Transcription Factors es_ES
dc.subject.meshDisease Progression es_ES
dc.subject.meshConsortiumes_ES
dc.subject.meshENHANCERSes_ES
dc.subject.meshPromoter Regions, Genetices_ES
dc.subject.meshMEF2Des_ES
dc.subject.meshOVEREXPRESSIONes_ES
dc.subject.meshPOLYMORPHISMSes_ES
dc.subject.meshtransitiones_ES
dc.subject.meshGene Expression es_ES
dc.titleAnalyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome locies_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución 4.0 Internacional*
dc.identifier.pubmedID29029385es_ES
dc.format.volume8es_ES
dc.format.number39es_ES
dc.format.page64670-64684es_ES
dc.identifier.doi10.18632/oncotarget.18501es_ES
dc.contributor.funderNational Science Foundation (Estados Unidos) 
dc.contributor.funderUnión Europea. Comisión Europea 
dc.contributor.funderCancer Research UK (Reino Unido) 
dc.contributor.funderCanadian Institutes of Health Research 
dc.contributor.funderCancer Council Western Australia (Australia) 
dc.contributor.funderInstituto de Salud Carlos III 
dc.contributor.funderMinisterio de Economía y Competitividad (España) 
dc.contributor.funderNorth Carolina Ovarian Cancer Study 
dc.description.peerreviewedes_ES
dc.identifier.e-issn1949-2553es_ES
dc.relation.publisherversionhttps://doi.org/10.18632/oncotarget.18501.es_ES
dc.identifier.journalOncotargetes_ES
dc.repisalud.institucionCNIOes_ES
dc.repisalud.orgCNIOCNIO::Grupos de investigación::Grupo de Genética Humanaes_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/PI12/01319.es_ES
dc.rights.accessRightsopen accesses_ES


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Este Item está sujeto a una licencia Creative Commons: Atribución 4.0 Internacional