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Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk

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dc.contributor.authorLindström, Sara
dc.contributor.authorThompson, Deborah J
dc.contributor.authorPaterson, Andrew D
dc.contributor.authorLi, Jingmei
dc.contributor.authorGierach, Gretchen L
dc.contributor.authorScott, Christopher
dc.contributor.authorStone, Jennifer
dc.contributor.authorDouglas, Julie A
dc.contributor.authorDos-Santos-Silva, Isabel
dc.contributor.authorFernandez-Navarro, Pablo L
dc.contributor.authorVerghase, Jajini
dc.contributor.authorSmith, Paula
dc.contributor.authorBrown, Judith
dc.contributor.authorLuben, Robert
dc.contributor.authorWareham, Nicholas J
dc.contributor.authorLoos, Ruth J F
dc.contributor.authorHeit, John A
dc.contributor.authorPankratz, V Shane
dc.contributor.authorNorman, Aaron
dc.contributor.authorGoode, Ellen L
dc.contributor.authorCunningham, Julie M
dc.contributor.authordeAndrade, Mariza
dc.contributor.authorVierkant, Robert A
dc.contributor.authorCzene, Kamila
dc.contributor.authorFasching, Peter A
dc.contributor.authorBaglietto, Laura
dc.contributor.authorSouthey, Melissa C
dc.contributor.authorGiles, Graham G
dc.contributor.authorShah, Kaanan P
dc.contributor.authorChan, Heang-Ping
dc.contributor.authorHelvie, Mark A
dc.contributor.authorBeck, Andrew H
dc.contributor.authorKnoblauch, Nicholas W
dc.contributor.authorHazra, Aditi
dc.contributor.authorHunter, David J
dc.contributor.authorKraft, Peter
dc.contributor.authorPollan-Santamaria, Marina
dc.contributor.authorFigueroa, Jonine D
dc.contributor.authorCouch, Fergus J
dc.contributor.authorHopper, John L
dc.contributor.authorHall, Per
dc.contributor.authorEaston, Douglas F
dc.contributor.authorBoyd, Norman F
dc.contributor.authorVachon, Celine M
dc.contributor.authorTamimi, Rulla M
dc.contributor.funderInstituto de Salud Carlos III
dc.contributor.funderUnión Europea
dc.date.accessioned2020-03-18T07:53:52Z
dc.date.available2020-03-18T07:53:52Z
dc.date.issued2014-10-24
dc.descriptionCorrigendum: genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. Nat Commun. 2015 Sep 9;6:8358. doi: 10.1038/ncomms9358. PMID: 26349435
dc.description.abstractMammographic density reflects the amount of stromal and epithelial tissues in relation to adipose tissue in the breast and is a strong risk factor for breast cancer. Here we report the results from meta-analysis of genome-wide association studies (GWAS) of three mammographic density phenotypes: dense area, non-dense area and percent density in up to 7,916 women in stage 1 and an additional 10,379 women in stage 2. We identify genome-wide significant (P<5 × 10(-8)) loci for dense area (AREG, ESR1, ZNF365, LSP1/TNNT3, IGF1, TMEM184B and SGSM3/MKL1), non-dense area (8p11.23) and percent density (PRDM6, 8p11.23 and TMEM184B). Four of these regions are known breast cancer susceptibility loci, and four additional regions were found to be associated with breast cancer (P<0.05) in a large meta-analysis. These results provide further evidence of a shared genetic basis between mammographic density and breast cancer and illustrate the power of studying intermediate quantitative phenotypes to identify putative disease-susceptibility loci.es_ES
dc.description.peerreviewedSíes_ES
dc.description.sponsorshipThis study was supported by CA131332, CA087969, CA049449, CA128931, CA116201, CA075016, CA122340, CA122844, CA15083, CA089393, K22LM011931 and X01 HG005954 from NIH; genotyping services for the OOA study were provided by the Center for Inherited Disease Research (CIDR), which is fully funded through a federal contract from the National Institutes of Health to The Johns Hopkins University, contract number HHSN268200782096; The Breast Cancer Research Foundation, Breast Cancer Research Fund; Cancer Research UK; Märit & Hans Rausing’s Initiative against Breast Cancer; Susan Komen Foundation; Agency for Science, Technology and Research of Singapore (A*STAR); David F. and Margaret T. Grohne Family Foundation; Campbell Family Institute for Breast Cancer Research; David F. and Margaret T. Grohne Family Foundation; Ontario Ministry of Health and Long Term Care; Fashion Footwear Charitable Foundation of New York/QVC Presents Shoes on Sale; FIS PI060386 from the Spain’s Health Research Fund and EPY 1306/06 Collaboration Agreement between Astra-Zeneca and the Carlos III Institute of Health; Elizabeth C. Crosby Research Award, Gladys E. Davis Endowed Fund, and the Office for Vice President of Research at the University of Michigan. EPIC-Norfolk was funded by research programme grant funding from Cancer Research UK and the Medical Research Council with additional support from the Stroke Association, British Heart Foundation, Department of Health, Research into Ageing and Academy of Medical Sciences. The SIBS study was supported by programme grant C1287/A10118 and project grants from Cancer Research UK [grant numbers C1287/8459]. SEARCH is funded by a programme grant from Cancer Research UK [C490/A10124]. The Polish Breast Cancer Study was supported (in part) by the Intramural Research Program of the National Institutes of Health, National Cancer Institute. The breast cancer meta-analysis is supported by the GAME-ON DRIVE (CA148065) and BCAC initiatives.The authors thank the BCAC, GAME-ON and DRIVE initiatives for generously sharing breast cancer association results for selected SNPs. The authors also thank the investigators in BCAC, PRACTICAL, CIMBA and OCAC for access to the iCOGS data for the replication analysis. BBCC was funded in part by the ELAN Program of the Medical Faculty, Friedrich-Alexander University Erlangen-Nuremberg. We thank all the individuals who took part in these studies and all the researchers, clinicians, technicians and administrative staff who have enabled this work to be carried out. The OOA study investigators thank the members of the Amish community for their generous support and participation, the staff at the Amish Research Clinic for their dedicated recruitment and fieldwork efforts, the members of Dr. Margarita Shultz’s radiology clinic for their expert mammography services, the staff at the Center for Inherited Disease Research for their exceptional genotyping services, Drs. Alan Shuldiner and Braxton Mitchell at the University of Maryland for their guidance and help with our fieldwork, and Terry Gliedt, Jennifer Greene Nidetz, Kristen Maas, Cris Van Hout, James MacDonald, Chris Plotts, Lubomir Hadjiiski, and Chuan Zhou at the University of Michigan for their technical assistance with data management, entry, and analysis and film digitization and scoring. The PBCS would like to thank Pei Chao and Michael Stagner from Information Management Services (Silver Spring, MD) for data management support; Laurie Burdette, Amy Hutchinson, and Jeff Yuenger from the NCI Core Genotyping facility for genotyping support; the participants, physicians, pathologists, nurses, and interviewers from participating centers in Poland for their efforts during field-work; Drs. Jola Lissowska and Ewa Wesolowska from the Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland for their assistance with mammogram retrieval; Dr. Norman Boyd from the University of Toronto for providing the mammographic density assessments; and Drs. Louise Brinton, Montserrat Garcia-Closas, Beata Peplonska, and Mark Sherman for their contributions to the study design. The authors thank Paul Pharoah and the SEARCH and EPIC teams.The iCOGS project would not have been possible without the contributions of the following: Paul Pharoah, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang (BCAC), Andrew Berchuck (OCAC), Rosalind A. Eeles, Ali Amin Al Olama, Zsofia Kote-Jarai, Sara Benlloch (PRACTICAL), Georgia Chenevix-Trench, Antonis Antoniou, Lesley McGuffog 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. Funding for the iCOGS infrastructure came from: the European Community’s Seventh Framework Programme under grant agreement n° 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692), 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 results published here are in part based upon data generated by The Cancer Genome Atlas project established by the NCI and NHGRI (dbGaP Study Accession: phs000178.v8.p7). Information about TCGA and the investigators and institutions who constitute the TCGA research network can be found at http://cancergenome.nih.gov/.es_ES
dc.format.number1es_ES
dc.format.page5303es_ES
dc.format.volume5es_ES
dc.identifier.citationNat Commun. 2014 Oct 24;5:5303.es_ES
dc.identifier.doi10.1038/ncomms6303es_ES
dc.identifier.e-issn2041-1723es_ES
dc.identifier.issn2041-1723es_ES
dc.identifier.journalNature communicationses_ES
dc.identifier.otherhttps://pmc.ncbi.nlm.nih.gov/articles/PMC4320806/
dc.identifier.pubmedID25342443es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/9268
dc.language.isoenges_ES
dc.publisherNature Publishing Groupes_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/CA131332es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/CA087969es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/CA049449es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/CA128931es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/CA116201es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/CA075016es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/CA122340es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/CA122844es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/CA15083es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/CA089393es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/K22LM011931es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/X01 HG005954es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/HHSN268200782096es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/FIS PI060386es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/EPY 1306/06es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/C1287/8459es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/C490/A10124es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/CA148065es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/HEALTH-F2-2009-223175es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/C1287/A10118es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/C1287/A 10710es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/C12292/A11174es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/C1281/A12014es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/C5047/A8384,es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/C5047/A15007es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/C5047/A10692es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/CA128978es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/1U19 CA148537es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/1U19 CA148065es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/1U19 CA148112es_ES
dc.relation.projectIDInfo:eu-repo/grantAgreement/W81XWH-10-1-0341es_ES
dc.relation.publisherversionhttps://doi.org/10.1038/ncomms6303es_ES
dc.repisalud.centroISCIII::Centro Nacional de Epidemiologíaes_ES
dc.repisalud.institucionISCIIIes_ES
dc.rights.accessRightsopen accesses_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subject.meshBreast Densityes_ES
dc.subject.meshBreast Neoplasmses_ES
dc.subject.meshCase-Control Studieses_ES
dc.subject.meshFemalees_ES
dc.subject.meshHumanses_ES
dc.subject.meshMammary Glands, Humanes_ES
dc.subject.meshPolymorphism, Single Nucleotidees_ES
dc.subject.meshRadiographyes_ES
dc.subject.meshGenetic Locies_ES
dc.subject.meshGenetic Predisposition to Diseasees_ES
dc.subject.meshGenome-Wide Association Studyes_ES
dc.titleGenome-wide association study identifies multiple loci associated with both mammographic density and breast cancer riskes_ES
dc.typeresearch articlees_ES
dc.type.hasVersionVoRes_ES
dspace.entity.typePublication
relation.isAuthorOfPublication204c29c1-c32f-483d-9ed7-1b12ec018754
relation.isAuthorOfPublicationcb3b77d8-c78c-4238-9b9d-c1171ff3ab51
relation.isAuthorOfPublication.latestForDiscovery204c29c1-c32f-483d-9ed7-1b12ec018754

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