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Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
dc.contributor.author | Mavaddat, Nasim | |
dc.contributor.author | Michailidou, Kyriaki | |
dc.contributor.author | Dennis, Joe | |
dc.contributor.author | Lush, Michael | |
dc.contributor.author | Fachal, Laura | |
dc.contributor.author | Lee, Andrew | |
dc.contributor.author | Tyrer, Jonathan P. | |
dc.contributor.author | Chen, Ting-Huei | |
dc.contributor.author | Wang, Qin | |
dc.contributor.author | Bolla, Manjeet K. | |
dc.contributor.author | Yang, Xin | |
dc.contributor.author | Adank, Muriel A. | |
dc.contributor.author | Ahearn, Thomas | |
dc.contributor.author | Aittomäki, Kristiina | |
dc.contributor.author | Allen, Jamie | |
dc.contributor.author | Andrulis, Irene L. | |
dc.contributor.author | Anton-Culver, Hoda | |
dc.contributor.author | Antonenkova, Natalia N. | |
dc.contributor.author | Arndt, Volker | |
dc.contributor.author | Aronson, Kristan J. | |
dc.contributor.author | Auer, Paul L. | |
dc.contributor.author | Auvinen, Päivi | |
dc.contributor.author | Barrdahl, Myrto | |
dc.contributor.author | Beane Freeman, Laura E. | |
dc.contributor.author | Beckmann, Matthias W. | |
dc.contributor.author | Behrens, Sabine | |
dc.contributor.author | Benitez, Javier | |
dc.contributor.author | Bermisheva, Marina | |
dc.contributor.author | Bernstein, Leslie | |
dc.contributor.author | Blomqvist, Carl | |
dc.contributor.author | Bogdanova, Natalia V. | |
dc.contributor.author | Bojesen, Stig E. | |
dc.contributor.author | Bonanni, Bernardo | |
dc.contributor.author | Børresen-Dale, Anne-Lise | |
dc.contributor.author | Brauch, Hiltrud | |
dc.contributor.author | Bremer, Michael | |
dc.contributor.author | Brenner, Hermann | |
dc.contributor.author | Brentnall, Adam | |
dc.contributor.author | Brock, Ian W. | |
dc.contributor.author | Brooks-Wilson, Angela | |
dc.contributor.author | Brucker, Sara Y. | |
dc.contributor.author | Brüning, Thomas | |
dc.contributor.author | Burwinkel, Barbara | |
dc.contributor.author | Campa, Daniele | |
dc.contributor.author | Carter, Brian D. | |
dc.contributor.author | Castelao Fernández, José Esteban | |
dc.contributor.author | Chanock, Stephen J. | |
dc.contributor.author | Chlebowski, Rowan | |
dc.contributor.author | Christiansen, Hans | |
dc.contributor.author | Clarke, Christine L. | |
dc.contributor.author | Collée, J. Margriet | |
dc.contributor.author | Cordina-Duverger, Emilie | |
dc.contributor.author | Cornelissen, Sten | |
dc.contributor.author | Couch, Fergus J. | |
dc.contributor.author | Cox, Angela | |
dc.contributor.author | Cross, Simon S. | |
dc.contributor.author | Czene, Kamila | |
dc.contributor.author | Daly, Mary B. | |
dc.contributor.author | Devilee, Peter | |
dc.contributor.author | Dörk, Thilo | |
dc.contributor.author | dos-Santos-Silva, Isabel | |
dc.contributor.author | Dumont, Martine | |
dc.contributor.author | Durcan, Lorraine | |
dc.contributor.author | Dwek, Miriam | |
dc.contributor.author | Eccles, Diana M. | |
dc.contributor.author | Ekici, Arif B. | |
dc.contributor.author | Eliassen, A. Heather | |
dc.contributor.author | Ellberg, Carolina | |
dc.contributor.author | Engel, Christoph | |
dc.contributor.author | Eriksson, Mikael | |
dc.contributor.author | Evans, D. Gareth | |
dc.contributor.author | Fasching, Peter A. | |
dc.contributor.author | Figueroa, Jonine | |
dc.contributor.author | Fletcher, Olivia | |
dc.contributor.author | Flyger, Henrik | |
dc.contributor.author | Försti, Asta | |
dc.contributor.author | Fritschi, Lin | |
dc.contributor.author | Gabrielson, Marike | |
dc.contributor.author | Gago Dominguez, Manuela | |
dc.contributor.author | Gapstur, Susan M. | |
dc.contributor.author | García-Sáenz, José A. | |
dc.contributor.author | Gaudet, Mia M. | |
dc.contributor.author | Georgoulias, Vassilios | |
dc.contributor.author | Giles, Graham G. | |
dc.contributor.author | Gilyazova, Irina R. | |
dc.contributor.author | Glendon, Gord | |
dc.contributor.author | Goldberg, Mark S. | |
dc.contributor.author | Goldgar, David E. | |
dc.contributor.author | González-Neira, Anna | |
dc.contributor.author | Grenaker Alnæs, Grethe I. | |
dc.contributor.author | Grip, Mervi | |
dc.contributor.author | Gronwald, Jacek | |
dc.contributor.author | Grundy, Anne | |
dc.contributor.author | Guénel, Pascal | |
dc.contributor.author | Haeberle, Lothar | |
dc.contributor.author | Hahnen, Eric | |
dc.contributor.author | Haiman, Christopher A. | |
dc.contributor.author | Håkansson, Niclas | |
dc.contributor.author | Hamann, Ute | |
dc.contributor.author | Hankinson, Susan E. | |
dc.contributor.author | Harkness, Elaine F. | |
dc.contributor.author | Hart, Steven N. | |
dc.contributor.author | He, Wei | |
dc.contributor.author | Hein, Alexander | |
dc.contributor.author | Heyworth, Jane | |
dc.contributor.author | Hillemanns, Peter | |
dc.contributor.author | Hollestelle, Antoinette | |
dc.contributor.author | Hooning, Maartje J. | |
dc.contributor.author | Hoover, Robert N. | |
dc.contributor.author | Hopper, John L. | |
dc.contributor.author | Howell, Anthony | |
dc.contributor.author | Huang, Guanmengqian | |
dc.contributor.author | Humphreys, Keith | |
dc.contributor.author | Hunter, David J. | |
dc.contributor.author | Jakimovska, Milena | |
dc.contributor.author | Jakubowska, Anna | |
dc.contributor.author | Janni, Wolfgang | |
dc.contributor.author | John, Esther M. | |
dc.contributor.author | Johnson, Nichola | |
dc.contributor.author | Jones, Michael E. | |
dc.contributor.author | Jukkola-Vuorinen, Arja | |
dc.contributor.author | Jung, Audrey | |
dc.contributor.author | Kaaks, Rudolf | |
dc.contributor.author | Kaczmarek, Katarzyna | |
dc.contributor.author | Kataja, Vesa | |
dc.contributor.author | Keeman, Renske | |
dc.contributor.author | Kerin, Michael J. | |
dc.contributor.author | Khusnutdinova, Elza | |
dc.contributor.author | Kiiski, Johanna I. | |
dc.contributor.author | Knight, Julia A. | |
dc.contributor.author | Ko, Yon-Dschun | |
dc.contributor.author | Kosma, Veli-Matti | |
dc.contributor.author | Koutros, Stella | |
dc.contributor.author | Kristensen, Vessela N. | |
dc.contributor.author | Krüger, Ute | |
dc.contributor.author | Kühl, Tabea | |
dc.contributor.author | Lambrechts, Diether | |
dc.contributor.author | Le Marchand, Loic | |
dc.contributor.author | Lee, Eunjung | |
dc.contributor.author | Lejbkowicz, Flavio | |
dc.contributor.author | Lilyquist, Jenna | |
dc.contributor.author | Lindblom, Annika | |
dc.contributor.author | Lindström, Sara | |
dc.contributor.author | Lissowska, Jolanta | |
dc.contributor.author | Lo, Wing-Yee | |
dc.contributor.author | Loibl, Sibylle | |
dc.contributor.author | Long, Jirong | |
dc.contributor.author | Lubiński, Jan | |
dc.contributor.author | Lux, Michael P. | |
dc.contributor.author | MacInnis, Robert J. | |
dc.contributor.author | Maishman, Tom | |
dc.contributor.author | Makalic, Enes | |
dc.contributor.author | Maleva Kostovska, Ivana | |
dc.contributor.author | Mannermaa, Arto | |
dc.contributor.author | Manoukian, Siranoush | |
dc.contributor.author | Margolin, Sara | |
dc.contributor.author | Martens, John W.M. | |
dc.contributor.author | Martinez, Maria Elena | |
dc.contributor.author | Mavroudis, Dimitrios | |
dc.contributor.author | McLean, Catriona | |
dc.contributor.author | Meindl, Alfons | |
dc.contributor.author | Menon, Usha | |
dc.contributor.author | Middha, Pooja | |
dc.contributor.author | Miller, Nicola | |
dc.contributor.author | Moreno, Fernando | |
dc.contributor.author | Mulligan, Anna Marie | |
dc.contributor.author | Mulot, Claire | |
dc.contributor.author | Muñoz Garzón, Victor | |
dc.contributor.author | Neuhausen, Susan L. | |
dc.contributor.author | Nevanlinna, Heli | |
dc.contributor.author | Neven, Patrick | |
dc.contributor.author | Newman, William G. | |
dc.contributor.author | Nielsen, Sune F. | |
dc.contributor.author | Nordestgaard, Børge G. | |
dc.contributor.author | Norman, Aaron | |
dc.contributor.author | Offit, Kenneth | |
dc.contributor.author | Olson, Janet E. | |
dc.contributor.author | Olsson, Håkan | |
dc.contributor.author | Orr, Nick | |
dc.contributor.author | Pankratz, V. Shane | |
dc.contributor.author | Park-Simon, Tjoung-Won | |
dc.contributor.author | Perez, Jose I.A. | |
dc.contributor.author | Pérez-Barrios, Clara | |
dc.contributor.author | Peterlongo, Paolo | |
dc.contributor.author | Peto, Julian | |
dc.contributor.author | Pinchev, Mila | |
dc.contributor.author | Plaseska-Karanfilska, Dijana | |
dc.contributor.author | Polley, Eric C. | |
dc.contributor.author | Prentice, Ross | |
dc.contributor.author | Presneau, Nadege | |
dc.contributor.author | Prokofyeva, Darya | |
dc.contributor.author | Purrington, Kristen | |
dc.contributor.author | Pylkäs, Katri | |
dc.contributor.author | Rack, Brigitte | |
dc.contributor.author | Radice, Paolo | |
dc.contributor.author | Rau-Murthy, Rohini | |
dc.contributor.author | Rennert, Gad | |
dc.contributor.author | Rennert, Hedy S. | |
dc.contributor.author | Rhenius, Valerie | |
dc.contributor.author | Robson, Mark | |
dc.contributor.author | Romero, Atocha | |
dc.contributor.author | Ruddy, Kathryn J. | |
dc.contributor.author | Ruebner, Matthias | |
dc.contributor.author | Saloustros, Emmanouil | |
dc.contributor.author | Sandler, Dale P. | |
dc.contributor.author | Sawyer, Elinor J. | |
dc.contributor.author | Schmidt, Daniel F. | |
dc.contributor.author | Schmutzler, Rita K. | |
dc.contributor.author | Schneeweiss, Andreas | |
dc.contributor.author | Schoemaker, Minouk J. | |
dc.contributor.author | Schumacher, Fredrick | |
dc.contributor.author | Schürmann, Peter | |
dc.contributor.author | Schwentner, Lukas | |
dc.contributor.author | Scott, Christopher | |
dc.contributor.author | Scott, Rodney J. | |
dc.contributor.author | Seynaeve, Caroline | |
dc.contributor.author | Shah, Mitul | |
dc.contributor.author | Sherman, Mark E. | |
dc.contributor.author | Shrubsole, Martha J. | |
dc.contributor.author | Shu, Xiao-Ou | |
dc.contributor.author | Slager, Susan | |
dc.contributor.author | Smeets, Ann | |
dc.contributor.author | Sohn, Christof | |
dc.contributor.author | Soucy, Penny | |
dc.contributor.author | Southey, Melissa C. | |
dc.contributor.author | Spinelli, John J. | |
dc.contributor.author | Stegmaier, Christa | |
dc.contributor.author | Stone, Jennifer | |
dc.contributor.author | Swerdlow, Anthony J. | |
dc.contributor.author | Tamimi, Rulla M. | |
dc.contributor.author | Tapper, William J. | |
dc.contributor.author | Taylor, Jack A. | |
dc.contributor.author | Terry, Mary Beth | |
dc.contributor.author | Thöne, Kathrin | |
dc.contributor.author | Tollenaar, Rob A.E.M. | |
dc.contributor.author | Tomlinson, Ian | |
dc.contributor.author | Truong, Thérèse | |
dc.contributor.author | Tzardi, Maria | |
dc.contributor.author | Ulmer, Hans-Ulrich | |
dc.contributor.author | Untch, Michael | |
dc.contributor.author | Vachon, Celine M. | |
dc.contributor.author | van Veen, Elke M. | |
dc.contributor.author | Vijai, Joseph | |
dc.contributor.author | Weinberg, Clarice R. | |
dc.contributor.author | Wendt, Camilla | |
dc.contributor.author | Whittemore, Alice S. | |
dc.contributor.author | Wildiers, Hans | |
dc.contributor.author | Willett, Walter | |
dc.contributor.author | Winqvist, Robert | |
dc.contributor.author | Wolk, Alicja | |
dc.contributor.author | Yang, Xiaohong R. | |
dc.contributor.author | Yannoukakos, Drakoulis | |
dc.contributor.author | Zhang, Yan | |
dc.contributor.author | Zheng, Wei | |
dc.contributor.author | Ziogas, Argyrios | |
dc.contributor.author | Dunning, Alison M. | |
dc.contributor.author | Thompson, Deborah J. | |
dc.contributor.author | Chenevix-Trench, Georgia | |
dc.contributor.author | Chang-Claude, Jenny | |
dc.contributor.author | Schmidt, Marjanka K. | |
dc.contributor.author | Hall, Per | |
dc.contributor.author | Milne, Roger L. | |
dc.contributor.author | Pharoah, Paul D.P. | |
dc.contributor.author | Antoniou, Antonis C. | |
dc.contributor.author | Chatterjee, Nilanjan | |
dc.contributor.author | Kraft, Peter | |
dc.contributor.author | García-Closas, Montserrat | |
dc.contributor.author | Simard, Jacques | |
dc.contributor.author | Easton, Douglas F. | |
dc.date.accessioned | 2019-08-27T11:39:38Z | |
dc.date.available | 2019-08-27T11:39:38Z | |
dc.date.issued | 2019 | |
dc.identifier.issn | 0002-9297 | |
dc.identifier.other | https://www.ncbi.nlm.nih.gov/pubmed/?term=30554720 | es |
dc.identifier.uri | http://hdl.handle.net/20.500.11940/12324 | |
dc.description.abstract | Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57-1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628-0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs. | es |
dc.description.sponsorship | Novartis | es |
dc.description.sponsorship | Eli Lilly and Company | es |
dc.description.sponsorship | AstraZeneca | es |
dc.description.sponsorship | AbbVie | es |
dc.description.sponsorship | Pfizer UK | es |
dc.description.sponsorship | Celgene | es |
dc.description.sponsorship | Eisai | es |
dc.description.sponsorship | Genentech | es |
dc.description.sponsorship | Merck Sharp and Dohme | es |
dc.description.sponsorship | Roche | es |
dc.description.sponsorship | Cancer Research UK | es |
dc.description.sponsorship | Government of Canada | es |
dc.description.sponsorship | Array BioPharma | es |
dc.description.sponsorship | Genome Canada | es |
dc.description.sponsorship | National Institutes of Health | es |
dc.description.sponsorship | European Commission | es |
dc.description.sponsorship | Ministère de l'Économie, de l’Innovation et des Exportations du Québec | es |
dc.description.sponsorship | Seventh Framework Programme | es |
dc.description.sponsorship | Canadian Institutes of Health Research | es |
dc.language.iso | eng | es |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject.mesh | Early Detection of Cancer | * |
dc.subject.mesh | Breast | * |
dc.subject.mesh | Risk | * |
dc.subject.mesh | Breast Neoplasms | * |
dc.subject.mesh | Polymorphism, Single Nucleotide | * |
dc.subject.mesh | Obstetrics | * |
dc.title | Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes | es |
dc.type | Artigo | es |
dc.rights.holder | Los autores | es |
dc.issue.number | 1 | es |
dc.journal.title | The American Journal of Human Genetics | es |
dc.organization | Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::Instituto de Investigación Biomédica Ourense-Pontevedra-Vigo (IBI) | es |
dc.organization | Servizo Galego de Saúde::Dirección Xeral de Asistencia Sanitaria::Fundación Pública Galega de Medicina Xenómica | es |
dc.organization | Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS) | es |
dc.organization | Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Vigo - Complexo Hospitalario Universitario de Vigo::Oncología Radioterápica | es |
dc.page.initial | 21 | es |
dc.page.final | 34 | es |
dc.relation.projectID | Cancer Research UK/C1287/A16563 | es |
dc.relation.projectID | Genome Canada/PSR-SIIRI-701 | es |
dc.relation.projectID | National Institutes of Health/1 U19 CA 148065 | es |
dc.relation.projectID | European Commission/C1287/A10710 | es |
dc.relation.projectID | Ministère de l'Économie, de l’Innovation et des Exportations du Québec/633784 | es |
dc.relation.projectID | Ministère de l'Économie, de l’Innovation et des Exportations du Québec/634935 | es |
dc.relation.projectID | Ministère de l'Économie, de l’Innovation et des Exportations du Québec/X01HG007492 | es |
dc.relation.projectID | Ministère de l'Économie, de l’Innovation et des Exportations du Québec/C1287/A10118 | es |
dc.relation.projectID | Ministère de l'Économie, de l’Innovation et des Exportations du Québec/U19 CA148065 | es |
dc.relation.projectID | 'info:eu-repo/grantAgreement/EC/FP7/HEALTH-F2-2009-223175,223175' | es |
dc.relation.projectID | Canadian Institutes of Health Research/GPH-129344 | es |
dc.relation.publisherversion | https://www.sciencedirect.com/science/article/pii/S0002929718304051?via%3Dihub | es |
dc.rights.accessRights | openAccess | es |
dc.subject.decs | obstetricia | * |
dc.subject.decs | neoplasias de la mama | * |
dc.subject.decs | polimorfismo de nucleótido único | * |
dc.subject.decs | detección precoz del cáncer | * |
dc.subject.decs | mama | * |
dc.subject.decs | riesgo | * |
dc.subject.keyword | Cancro de mama | es |
dc.subject.keyword | Cribado do cancro de mama | es |
dc.twitter | true | en |
dc.typefides | Artigo Científico (inclue Orixinal, Orixinal breve, Revisión Sistemática e Meta-análisis) | es |
dc.typesophos | Artículo Original | es |
dc.volume.number | 104 | es |