Show simple item record

dc.contributor.authorHamdi, Yosr
dc.contributor.authorSoucy, Penny
dc.contributor.authorAdoue, Véronique
dc.contributor.authorMichailidou, Kyriaki
dc.contributor.authorCanisius, Sander
dc.contributor.authorLemaçon, Audrey
dc.contributor.authorDroit, Arnaud
dc.contributor.authorAndrulis, Irene L
dc.contributor.authorAnton-Culver, Hoda
dc.contributor.authorArndt, Volker
dc.contributor.authorBaynes, Caroline
dc.contributor.authorBlomqvist, Carl
dc.contributor.authorBogdanova, Natalia V
dc.contributor.authorBojesen, Stig E
dc.contributor.authorBolla, Manjeet K
dc.contributor.authorBonanni, Bernardo
dc.contributor.authorBorresen-Dale, Anne-Lise
dc.contributor.authorBrand, Judith S
dc.contributor.authorBrauch, Hiltrud
dc.contributor.authorBrenner, Hermann
dc.contributor.authorBroeks, Annegien
dc.contributor.authorBurwinkel, Barbara
dc.contributor.authorChang-Claude, Jenny
dc.contributor.authorCouch, Fergus J
dc.contributor.authorCox, Angela
dc.contributor.authorCross, Simon S
dc.contributor.authorCzene, Kamila
dc.contributor.authorDarabi, Hatef
dc.contributor.authorDennis, Joe
dc.contributor.authorDevilee, Peter
dc.contributor.authorDörk, Thilo
dc.contributor.authorDos-Santos-Silva, Isabel
dc.contributor.authorEriksson, Mikael
dc.contributor.authorFasching, Peter A
dc.contributor.authorFigueroa, Jonine
dc.contributor.authorFlyger, Henrik
dc.contributor.authorGarcía-Closas, Montserrat
dc.contributor.authorGiles, Graham G
dc.contributor.authorGoldberg, Mark S
dc.contributor.authorGonzález-Neira, Anna 
dc.contributor.authorGrenaker-Alnæs, Grethe
dc.contributor.authorGuénel, Pascal
dc.contributor.authorHaeberle, Lothar
dc.contributor.authorHaiman, Christopher A
dc.contributor.authorHamann, Ute
dc.contributor.authorHallberg, Emily
dc.contributor.authorHooning, Maartje J
dc.contributor.authorHopper, John L
dc.contributor.authorJakubowska, Anna
dc.contributor.authorJones, Michael
dc.contributor.authorKabisch, Maria
dc.contributor.authorKataja, Vesa
dc.contributor.authorLambrechts, Diether
dc.contributor.authorLe Marchand, Loic
dc.contributor.authorLindblom, Annika
dc.contributor.authorLubinski, Jan
dc.contributor.authorMannermaa, Arto
dc.contributor.authorMaranian, Mel
dc.contributor.authorMargolin, Sara
dc.contributor.authorMarme, Frederik
dc.contributor.authorMilne, Roger L
dc.contributor.authorNeuhausen, Susan L
dc.contributor.authorNevanlinna, Heli
dc.contributor.authorNeven, Patrick
dc.contributor.authorOlswold, Curtis
dc.contributor.authorPeto, Julian
dc.contributor.authorPlaseska-Karanfilska, Dijana
dc.contributor.authorPylkäs, Katri
dc.contributor.authorRadice, Paolo
dc.contributor.authorRudolph, Anja
dc.contributor.authorSawyer, Elinor J
dc.contributor.authorSchmidt, Marjanka K
dc.contributor.authorShu, Xiao-Ou
dc.contributor.authorSouthey, Melissa C
dc.contributor.authorSwerdlow, Anthony
dc.contributor.authorTollenaar, Rob A E M
dc.contributor.authorTomlinson, Ian
dc.contributor.authorTorres, Diana
dc.contributor.authorTruong, Thérèse
dc.contributor.authorVachon, Celine
dc.contributor.authorVan Den Ouweland, Ans M W
dc.contributor.authorWang, Qin
dc.contributor.authorWinqvist, Robert
dc.contributor.authorZheng, Wei
dc.contributor.authorBenitez, Javier
dc.contributor.authorChenevix-Trench, Georgia
dc.contributor.authorDunning, Alison M
dc.contributor.authorPharoah, Paul D P
dc.contributor.authorKristensen, Vessela
dc.contributor.authorHall, Per
dc.contributor.authorEaston, Douglas F
dc.contributor.authorPastinen, Tomi
dc.contributor.authorNord, Silje
dc.contributor.authorSimard, Jacques
dc.date.accessioned2020-07-09T14:18:04Z
dc.date.available2020-07-09T14:18:04Z
dc.date.issued2016-12-06
dc.identifier.citationOncotarget .2016;7(49):80140-80163.es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/10724
dc.description.abstractThere are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory SNPs associated with differential allelic expression are functional candidates for further investigation as disease-causing variants. To investigate whether common variants associated with differential allelic expression were involved in breast cancer susceptibility, a list of genes was established on the basis of their involvement in cancer related pathways and/or mechanisms. Thereafter, using data from a genome-wide map of allelic expression associated SNPs, 313 genetic variants were selected and their association with breast cancer risk was then evaluated in 46,451 breast cancer cases and 42,599 controls of European ancestry ascertained from 41 studies participating in the Breast Cancer Association Consortium. The associations were evaluated with overall breast cancer risk and with estrogen receptor negative and positive disease. One novel breast cancer susceptibility locus on 4q21 (rs11099601) was identified (OR = 1.05, P = 5.6x10-6). rs11099601 lies in a 135 kb linkage disequilibrium block containing several genes, including, HELQ, encoding the protein HEL308 a DNA dependant ATPase and DNA Helicase involved in DNA repair, MRPS18C encoding the Mitochondrial Ribosomal Protein S18C and FAM175A (ABRAXAS), encoding a BRCA1 BRCT domain-interacting protein involved in DNA damage response and double-strand break (DSB) repair. Expression QTL analysis in breast cancer tissue showed rs11099601 to be associated with HELQ (P = 8.28x10-14), MRPS18C (P = 1.94x10-27) and FAM175A (P = 3.83x10-3), explaining about 20%, 14% and 1%, respectively of the variance inexpression of these genes in breast carcinomas.es_ES
dc.description.sponsorshipThis work was supported by the Canadian Institutes of Health Research for the "CIHR Team in Familial Risks of Breast Cancer" program - grant # CRN-87521, the Ministry of Economy Innovation and Exportations-grant # PSR-SIIRI-701 and by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, and the Ministere de l'Economie, de la Science et de l'Innovation du Quebec through Genome Quebec and The Quebec Breast Cancer Foundation for the PERSPECTIVE project. Jacques Simard is Chairholder of the Canada Research Chair in Oncogenetics. Silje Nord is financed by a carrier grant from the Norwegian Regional Health authorities (Grant number 2014061). BCAC is funded by Cancer Research UK [C1287/A10118, C1287/A12014] and by the European Community's Seventh Framework Programme under grant agreement number 223175 (grant number HEALTH-F2-2009-223175) (COGS). Funding for the iCOGS infrastructure came from: the European Community's Seventh Framework Programme under grant agreement no 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), the National Institutes of Health (CA128978) and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112 - the GAME-ON initiative), the Department of Defence (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. The Australian Breast Cancer Family Study (ABCFS) was supported by grant UM1 CA164920 from the National Cancer Institute (USA). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the USA Government or the BCFR. The ABCFS was also supported by the National Health and Medical Research Council of Australia, the New South Wales Cancer Council, the Victorian Health Promotion Foundation (Australia) and the Victorian Breast Cancer Research Consortium. J.L.H. is a National Health and Medical Research Council (NHMRC) Senior Principal Research Fellow. M.C.S. is a NHMRC Senior Research Fellow. The ABCS study was supported by the Dutch Cancer Society [grants NKI 2007-3839; 2009 4363]; BBMRI-NL, which is a Research Infrastructure financed by the Dutch government (NWO 184.021.007); and the Dutch National Genomics Initiative. The work of the BBCC was partly funded by ELAN-Fond of the University Hospital of Erlangen. The BBCS is funded by Cancer Research UK and Breast Cancer Now and acknowledges NHS funding to the NIHR Biomedical Research Centre, and the National Cancer Research Network (NCRN). ES is supported by NIHR Comprehensive Biomedical Research Centre, Guy's & St. Thomas' NHS Foundation Trust in partnership with King's College London, United Kingdom. IT is supported by the Oxford Biomedical Research Center. The BSUCH study was supported by the Dietmar-Hopp Foundation, the Helmholtz Society and the German Cancer Research Center (DKFZ). The CECILE study was funded by Fondation de France, Institut National du Cancer (INCa), Ligue Nationale contre le Cancer, Ligue contre le Cancer Grand Ouest, Agence Nationale de Securite Sanitaire (ANSES), Agence Nationale de la Recherche (ANR). The CGPS was supported by the Chief Physician Johan Boserup and Lise Boserup Fund, the Danish Medical Research Council and Herlev Hospital. The CNIO-BCS was supported by the Instituto de Salud Carlos III, the Red Tematica de Investigacion Cooperativa en Cancer and grants from the Asociacion Espanola Contra el Cancer and the Fondo de Investigacion Sanitario (PI11/00923 and PI12/00070). The CTS was initially supported by the California Breast Cancer Act of 1993 and the California Breast Cancer Research Fund (contract 97-10500) and is currently funded through the National Institutes of Health (R01 CA77398). Collection of cancer incidence data was supported by the California Department of Public Health as part of the statewide cancer reporting program mandated by California Health and Safety Code Section 103885. HAC receives support from the Lon V Smith Foundation (LVS39420). The ESTHER study was supportd by a grant from the Baden Wurttemberg Ministry of Science, Research and Arts. Additional cases were recruited in the context of the VERDI study, which was supported by a grant from the German Cancer Aid (Deutsche Krebshilfe). The GENICA was funded by the Federal Ministry of Education and Research (BMBF) Germany grants 01KW9975/5, 01KW9976/8, 01KW9977/0 and 01KW0114, the Robert Bosch Foundation, Stuttgart, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, the Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, as well as the Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany. The HEBCS was financilly supported by the Helsinki University Central Hospital Research Fund, Academy of Finland (266528), the Finnish Cancer Society, The Nordic Cancer Union and the Sigrid Juselius Foundation. The HMBCS was supported by a grant from the Friends of Hannover Medical School and by the Rudolf Bartling Foundation. Financial support for KARBAC was provided through the regional agreement on medical training and clinical research (ALF) between Stockholm County Council and Karolinska Institutet, the Swedish Cancer Society, The Gustav V Jubilee foundation and and Bert von Kantzows foundation. The KBCP was financially supported by the special Government Funding (EVO) of Kuopio University Hospital grants, Cancer Fund of North Savo, the Finnish Cancer Organizations, and by the strategic funding of the University of Eastern Finland. kConFab is supported by a grant from the National Breast Cancer Foundation, and previously by the National Health and Medical Research Council (NHMRC), the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. Financial support for the AOCS was provided by the United States Army Medical Research and Materiel Command [DAMD17-01-1-0729], Cancer Council Victoria, Queensland Cancer Fund, Cancer Council New South Wales, Cancer Council South Australia, The Cancer Foundation of Western Australia, Cancer Council Tasmania and the National Health and Medical Research Council of Australia (NHMRC; 400413, 400281, 199600). G.C.T. and P.W. are supported by the NHMRC. RB was a Cancer Institute NSW Clinical Research Fellow. LMBC is supported by the 'Stichting tegen Kanker' (232-2008 and 196-2010). Diether Lambrechts is supported by the FWO and the KULPFV/10/016-SymBioSysII. The MARIE study was supported by the Deutsche Krebshilfe e.V. [70-2892-BR I, 106332, 108253, 108419], the Hamburg Cancer Society, the German Cancer Research Center (DKFZ) and the Federal Ministry of Education and Research (BMBF) Germany [01KH0402]. MBCSG (Milan Breast Cancer Study Group) is supported by grants from the Italian Association for Cancer Research (AIRC) and by funds from the Italian citizens who allocated the 5/1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects "5x1000"). The MCBCS was supported by the NIH grants CA192393, CA116167, CA176785 an NIH Specialized Program of Research Excellence (SPORE) in Breast Cancer [CA116201], and the Breast Cancer Research Foundation and a generous gift from the David F. and Margaret T. Grohne Family Foundation. MCCS cohort recruitment was funded by VicHealth and Cancer Council Victoria. The MCCS was further supported by Australian NHMRC grants 209057, 251553 and 504711 and by infrastructure provided by Cancer Council Victoria. Cases and their vital status were ascertained through the Victorian Cancer Registry (VCR) and the Australian Institute of Health and Welfare (AIHW), including the National Death Index and the Australian Cancer Database. The MEC was support by NIH grants CA63464, CA54281, CA098758 and CA132839. The work of MTLGEBCS was supported by the Quebec Breast Cancer Foundation, the Canadian Institutes of Health Research for the "CIHR Team in Familial Risks of Breast Cancer" program - grant # CRN-87521 and the Ministry of Economic Development, Innovation and Export Trade - grant # PSR-SIIRI-701. The NBCS has been supported by the Research Council of Norway grant 193387/V50 (to A-L Borresen-Dale and V.N. Kristensen) and grant 193387/H10 (to A-L Borresen-Dale and V.N. Kristensen), South Eastern Norway Health Authority (grant 39346 to A-L Borresen-Dale and 27208 to V.N. Kristensen) and the Norwegian Cancer Society (to A-L Borresen-Dale and 419616 - 71248 - PR-2006-0282 to V.N. Kristensen). It has received funding from the K.G. Jebsen Centre for Breast Cancer Research (2012-2015). The OBCS was supported by research grants from the Finnish Cancer Foundation, the Academy of Finland (grant number 250083, 122715 and Center of Excellence grant number 251314), the Finnish Cancer Foundation, the Sigrid Juselius Foundation, the University of Oulu, the University of Oulu Support Foundation and the special Governmental EVO funds for Oulu University Hospital-based research activities. The Ontario Familial Breast Cancer Registry (OFBCR) was supported by grant UM1 CA164920 from the National Cancer Institute (USA). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the USA Government or the BCFR. The ORIGO study was supported by the Dutch Cancer Society (RUL 1997-1505) and the Biobanking and Biomolecular Resources Research Infrastructure (BBMRI-NL CP16). The PBCS was funded by Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA. The pKARMA study was supported by Marit and Hans Rausings Initiative against Breast Cancer. The RBCS was funded by the Dutch Cancer Society (DDHK 2004-3124, DDHK 2009-4318). The SASBAC study was supported by funding from the Agency for Science, Technology and Research of Singapore (A*STAR), the US National Institute of Health (NIH) and the Susan G. Komen Breast Cancer Foundation. The SBCS was supported by Yorkshire Cancer Research S295, S299, S305PA and Sheffield Experimental Cancer Medicine Centre. SEARCH is funded by a programme grant from Cancer Research UK [C490/A10124] and supported by the UK National Institute for Health Research Biomedical Research Centre at the University of Cambridge. SEBCS was supported by the BRL (Basic Research Laboratory) program through the National Research Foundation of Korea funded by the Ministry of Education, Science and Technology (2012-0000347). SGBCC is funded by the NUS start-up Grant, National University Cancer Institute Singapore (NCIS) Centre Grant and the NMRC Clinician Scientist Award. Additional controls were recruited by the Singapore Consortium of Cohort Studies-Multi-ethnic cohort (SCCS-MEC), which was funded by the Biomedical Research Council, grant number: 05/1/21/19/425. SKKDKFZS is supported by the DKFZ. The SZBCS was supported by Grant PBZ_KBN_122/P05/2004. The TNBCC was supported by: a Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), a grant from the Breast Cancer Research Foundation, a generous gift from the David F. and Margaret T. Grohne Family Foundation. The UKBGS is funded by Breast Cancer Now and the Institute of Cancer Research (ICR), London. ICR acknowledges NHS funding to the NIHR Biomedical Research Centre.
dc.language.isoenges_ES
dc.publisherIMPACT JOURNALS LLCes_ES
dc.relation.isversionofPublisher's versiones_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subjectGENOME-WIDE ASSOCIATION;es_ES
dc.subjectBRCA1 MUTATION CARRIERSes_ES
dc.subjectDNA-DAMAGE RESPONSEes_ES
dc.subjectOVARIAN-CANCERes_ES
dc.subjectCOMMON VARIANTSes_ES
dc.subjectMISSENSE SUBSTITUTIONSes_ES
dc.subjectCONFER SUSCEPTIBILITYes_ES
dc.subjectFUNCTIONAL VARIANTSes_ES
dc.subjectANALYSES REVEALes_ES
dc.subjectHUMAN-CELLSes_ES
dc.subject.meshChromosomes, Human, Pair 4 es_ES
dc.subject.meshPolymorphism, Single Nucleotidees_ES
dc.subject.meshBiomarkers, Tumor es_ES
dc.subject.meshBreast Neoplasms es_ES
dc.subject.meshCanada es_ES
dc.subject.meshCarrier Proteins es_ES
dc.subject.meshCase-Control Studies es_ES
dc.subject.meshDNA Helicases es_ES
dc.subject.meshEurope es_ES
dc.subject.meshFemale es_ES
dc.subject.meshGene Frequency es_ES
dc.subject.meshGenetic Association Studies es_ES
dc.subject.meshGenetic Predisposition to Disease es_ES
dc.subject.meshHumans es_ES
dc.subject.meshLinkage Disequilibrium es_ES
dc.subject.meshMitochondrial Proteins es_ES
dc.subject.meshOdds Ratio es_ES
dc.subject.meshPhenotype es_ES
dc.subject.meshQuantitative Trait Loci es_ES
dc.subject.meshRisk Assessment es_ES
dc.subject.meshRisk Factors es_ES
dc.titleAssociation of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.es_ES
dc.typeArtículoes_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.identifier.pubmedID27792995es_ES
dc.format.volume7es_ES
dc.format.number49es_ES
dc.format.page80140-80163es_ES
dc.identifier.doi10.18632/oncotarget.12818es_ES
dc.contributor.funderCanadian Institutes of Health Research
dc.contributor.funderNorwegian Regional Health authorities
dc.contributor.funderCancer Research UK (Reino Unido)
dc.contributor.funderUnión Europea
dc.contributor.funderUnited States of Department of Health & Human Services
dc.contributor.funderPost-Cancer GWAS initiative
dc.contributor.funderKWF Kankerbestrijding
dc.contributor.funderInstituto de Salud Carlos III 
dc.contributor.funderCalifornia Breast Cancer Research Program
dc.contributor.funderCalifornia Department of Public Health
dc.contributor.funderFederal Ministry of Education & Research (Alemania)
dc.contributor.funderFinlands Akademi (Finlandia)
dc.contributor.funderUnited States Army Medical Research and Development Command
dc.contributor.funderStichting tegen Kanker
dc.contributor.funderDeutsche Krebshilfe
dc.contributor.funderFondazione IRCCS Istituto Nazionale Tumori
dc.contributor.funderNational Health and Medical Research Council (Australia)
dc.contributor.funderMinistère du Développement économique, de l’Innovation et de l’Exportation (Canadá)
dc.contributor.funderThe Research Council of Norway
dc.contributor.funderSouthern and Eastern Norway Regional Health Authority
dc.contributor.funderNorwegian Cancer Society
dc.contributor.funderBiobanking and BioMolecular resources Research Infrastructure (Países Bajos)
dc.contributor.funderYorkshire Cancer Research
dc.contributor.funderBRL (Basic Research Laboratory) program through the National Research Foundation of Korea - Ministry of Education, Science and Technology
dc.contributor.funderAgency for Science, Technology and Research (Singapur)
dc.contributor.funderNIH - National Cancer Institute (NCI). Specialized Programs of Research Excellence (SPOREs) (Estados Unidos)
dc.description.peerreviewedes_ES
dc.identifier.e-issn1949-2553es_ES
dc.relation.publisherversionhttps://doi.org/10.18632/oncotarget.12818es_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/PI11/00923es_ES
dc.relation.projectIDinfo:eu_repo/grantAgreement/ES/PI12/00070es_ES
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses_ES


Files in this item

Acceso Abierto
Thumbnail
Acceso Abierto
Acceso Abierto
Acceso Abierto
Acceso Abierto
Acceso Abierto

This item appears in the following Collection(s)

Show simple item record

Atribución-NoComercial-CompartirIgual 4.0 Internacional
This item is licensed under a: Atribución-NoComercial-CompartirIgual 4.0 Internacional