dc.contributor.author | Fachal, L | |
dc.contributor.author | Aschard, H | |
dc.contributor.author | Beesley, J | |
dc.contributor.author | Barnes, DR | |
dc.contributor.author | Allen, J | |
dc.contributor.author | Kar, S | |
dc.contributor.author | Pooley, KA | |
dc.contributor.author | Dennis, J | |
dc.contributor.author | Michailidou, K | |
dc.contributor.author | Turman, C | |
dc.contributor.author | Soucy, P | |
dc.contributor.author | Lemaçon, A | |
dc.contributor.author | Lush, M | |
dc.contributor.author | Tyrer, JP | |
dc.contributor.author | Ghoussaini, M | |
dc.contributor.author | Moradi Marjaneh, M | |
dc.contributor.author | Jiang, X | |
dc.contributor.author | Agata, S | |
dc.contributor.author | Aittomäki, K | |
dc.contributor.author | Alonso, MR | |
dc.contributor.author | Andrulis, IL | |
dc.contributor.author | Anton-Culver, H | |
dc.contributor.author | Antonenkova, NN | |
dc.contributor.author | Arason, A | |
dc.contributor.author | Arndt, V | |
dc.contributor.author | Aronson, KJ | |
dc.contributor.author | Arun, BK | |
dc.contributor.author | Auber, B | |
dc.contributor.author | Auer, PL | |
dc.contributor.author | Azzollini, J | |
dc.contributor.author | Balmaña, J | |
dc.contributor.author | Barkardottir, RB | |
dc.contributor.author | Barrowdale, D | |
dc.contributor.author | Beeghly-Fadiel, A | |
dc.contributor.author | Benitez, J | |
dc.contributor.author | Bermisheva, M | |
dc.contributor.author | Białkowska, K | |
dc.contributor.author | Blanco, AM | |
dc.contributor.author | Blomqvist, C | |
dc.contributor.author | Blot, W | |
dc.contributor.author | Bogdanova, NV | |
dc.contributor.author | Bojesen, SE | |
dc.contributor.author | Bolla, MK | |
dc.contributor.author | Bonanni, B | |
dc.contributor.author | Borg, A | |
dc.contributor.author | Bosse, K | |
dc.contributor.author | Brauch, H | |
dc.contributor.author | Brenner, H | |
dc.contributor.author | Briceno, I | |
dc.contributor.author | Brock, IW | |
dc.contributor.author | Brooks-Wilson, A | |
dc.contributor.author | Brüning, T | |
dc.contributor.author | Burwinkel, B | |
dc.contributor.author | Buys, SS | |
dc.contributor.author | Cai, Q | |
dc.contributor.author | Caldés, T | |
dc.contributor.author | Caligo, MA | |
dc.contributor.author | Camp, NJ | |
dc.contributor.author | Campbell, I | |
dc.contributor.author | Canzian, F | |
dc.contributor.author | Carroll, JS | |
dc.contributor.author | Carter, BD | |
dc.contributor.author | Castelao, JE | |
dc.contributor.author | Chiquette, J | |
dc.contributor.author | Christiansen, H | |
dc.contributor.author | Chung, WK | |
dc.contributor.author | Claes, KBM | |
dc.contributor.author | Clarke, CL | |
dc.contributor.author | GEMO Study Collaborators, | |
dc.contributor.author | EMBRACE Collaborators, | |
dc.contributor.author | Collée, JM | |
dc.contributor.author | Cornelissen, S | |
dc.contributor.author | Couch, FJ | |
dc.contributor.author | Cox, A | |
dc.contributor.author | Cross, SS | |
dc.contributor.author | Cybulski, C | |
dc.contributor.author | Czene, K | |
dc.contributor.author | Daly, MB | |
dc.contributor.author | de la Hoya, M | |
dc.contributor.author | Devilee, P | |
dc.contributor.author | Diez, O | |
dc.contributor.author | Ding, YC | |
dc.contributor.author | Dite, GS | |
dc.contributor.author | Domchek, SM | |
dc.contributor.author | Dörk, T | |
dc.contributor.author | Dos-Santos-Silva, I | |
dc.contributor.author | Droit, A | |
dc.contributor.author | Dubois, S | |
dc.contributor.author | Dumont, M | |
dc.contributor.author | Duran, M | |
dc.contributor.author | Durcan, L | |
dc.contributor.author | Dwek, M | |
dc.contributor.author | Eccles, DM | |
dc.contributor.author | Engel, C | |
dc.contributor.author | Eriksson, M | |
dc.contributor.author | Evans, DG | |
dc.contributor.author | Fasching, PA | |
dc.contributor.author | Fletcher, O | |
dc.contributor.author | Floris, G | |
dc.contributor.author | Flyger, H | |
dc.contributor.author | Foretova, L | |
dc.contributor.author | Foulkes, WD | |
dc.contributor.author | Friedman, E | |
dc.contributor.author | Fritschi, L | |
dc.contributor.author | Frost, D | |
dc.contributor.author | Gabrielson, M | |
dc.contributor.author | Gago-Dominguez, M | |
dc.contributor.author | Gambino, G | |
dc.contributor.author | Ganz, PA | |
dc.contributor.author | Gapstur, SM | |
dc.contributor.author | Garber, J | |
dc.contributor.author | García-Sáenz, JA | |
dc.contributor.author | Gaudet, MM | |
dc.contributor.author | Georgoulias, V | |
dc.contributor.author | Giles, GG | |
dc.contributor.author | Glendon, G | |
dc.contributor.author | Godwin, AK | |
dc.contributor.author | Goldberg, MS | |
dc.contributor.author | Goldgar, DE | |
dc.contributor.author | González-Neira, A | |
dc.contributor.author | Tibiletti, MG | |
dc.contributor.author | Greene, MH | |
dc.contributor.author | Grip, M | |
dc.contributor.author | Gronwald, J | |
dc.contributor.author | Grundy, A | |
dc.contributor.author | Guénel, P | |
dc.contributor.author | Hahnen, E | |
dc.contributor.author | Haiman, CA | |
dc.contributor.author | Håkansson, N | |
dc.contributor.author | Hall, P | |
dc.contributor.author | Hamann, U | |
dc.contributor.author | Harrington, PA | |
dc.contributor.author | Hartikainen, JM | |
dc.contributor.author | Hartman, M | |
dc.contributor.author | He, W | |
dc.contributor.author | Healey, CS | |
dc.contributor.author | Heemskerk-Gerritsen, BAM | |
dc.contributor.author | Heyworth, J | |
dc.contributor.author | Hillemanns, P | |
dc.contributor.author | Hogervorst, FBL | |
dc.contributor.author | Hollestelle, A | |
dc.contributor.author | Hooning, MJ | |
dc.contributor.author | Hopper, JL | |
dc.contributor.author | Howell, A | |
dc.contributor.author | Huang, G | |
dc.contributor.author | Hulick, PJ | |
dc.contributor.author | Imyanitov, EN | |
dc.contributor.author | KConFab Investigators, | |
dc.contributor.author | HEBON Investigators, | |
dc.contributor.author | ABCTB Investigators, | |
dc.contributor.author | Isaacs, C | |
dc.contributor.author | Iwasaki, M | |
dc.contributor.author | Jager, A | |
dc.contributor.author | Jakimovska, M | |
dc.contributor.author | Jakubowska, A | |
dc.contributor.author | James, PA | |
dc.contributor.author | Janavicius, R | |
dc.contributor.author | Jankowitz, RC | |
dc.contributor.author | John, EM | |
dc.contributor.author | Johnson, N | |
dc.contributor.author | Jones, ME | |
dc.contributor.author | Jukkola-Vuorinen, A | |
dc.contributor.author | Jung, A | |
dc.contributor.author | Kaaks, R | |
dc.contributor.author | Kang, D | |
dc.contributor.author | Kapoor, PM | |
dc.contributor.author | Karlan, BY | |
dc.contributor.author | Keeman, R | |
dc.contributor.author | Kerin, MJ | |
dc.contributor.author | Khusnutdinova, E | |
dc.contributor.author | Kiiski, JI | |
dc.contributor.author | Kirk, J | |
dc.contributor.author | Kitahara, CM | |
dc.contributor.author | Ko, Y-D | |
dc.contributor.author | Konstantopoulou, I | |
dc.contributor.author | Kosma, V-M | |
dc.contributor.author | Koutros, S | |
dc.contributor.author | Kubelka-Sabit, K | |
dc.contributor.author | Kwong, A | |
dc.contributor.author | Kyriacou, K | |
dc.contributor.author | Laitman, Y | |
dc.contributor.author | Lambrechts, D | |
dc.contributor.author | Lee, E | |
dc.contributor.author | Leslie, G | |
dc.contributor.author | Lester, J | |
dc.contributor.author | Lesueur, F | |
dc.contributor.author | Lindblom, A | |
dc.contributor.author | Lo, W-Y | |
dc.contributor.author | Long, J | |
dc.contributor.author | Lophatananon, A | |
dc.contributor.author | Loud, JT | |
dc.contributor.author | Lubiński, J | |
dc.contributor.author | MacInnis, RJ | |
dc.contributor.author | Maishman, T | |
dc.contributor.author | Makalic, E | |
dc.contributor.author | Mannermaa, A | |
dc.contributor.author | Manoochehri, M | |
dc.contributor.author | Manoukian, S | |
dc.contributor.author | Margolin, S | |
dc.contributor.author | Martinez, ME | |
dc.contributor.author | Matsuo, K | |
dc.contributor.author | Maurer, T | |
dc.contributor.author | Mavroudis, D | |
dc.contributor.author | Mayes, R | |
dc.contributor.author | McGuffog, L | |
dc.contributor.author | McLean, C | |
dc.contributor.author | Mebirouk, N | |
dc.contributor.author | Meindl, A | |
dc.contributor.author | Miller, A | |
dc.contributor.author | Miller, N | |
dc.contributor.author | Montagna, M | |
dc.contributor.author | Moreno, F | |
dc.contributor.author | Muir, K | |
dc.contributor.author | Mulligan, AM | |
dc.contributor.author | Muñoz-Garzon, VM | |
dc.contributor.author | Muranen, TA | |
dc.contributor.author | Narod, SA | |
dc.contributor.author | Nassir, R | |
dc.contributor.author | Nathanson, KL | |
dc.contributor.author | Neuhausen, SL | |
dc.contributor.author | Nevanlinna, H | |
dc.contributor.author | Neven, P | |
dc.contributor.author | Nielsen, FC | |
dc.contributor.author | Nikitina-Zake, L | |
dc.contributor.author | Norman, A | |
dc.contributor.author | Offit, K | |
dc.contributor.author | Olah, E | |
dc.contributor.author | Olopade, OI | |
dc.contributor.author | Olsson, H | |
dc.contributor.author | Orr, N | |
dc.contributor.author | Osorio, A | |
dc.contributor.author | Pankratz, VS | |
dc.contributor.author | Papp, J | |
dc.contributor.author | Park, SK | |
dc.contributor.author | Park-Simon, T-W | |
dc.contributor.author | Parsons, MT | |
dc.contributor.author | Paul, J | |
dc.contributor.author | Pedersen, IS | |
dc.contributor.author | Peissel, B | |
dc.contributor.author | Peshkin, B | |
dc.contributor.author | Peterlongo, P | |
dc.contributor.author | Peto, J | |
dc.contributor.author | Plaseska-Karanfilska, D | |
dc.contributor.author | Prajzendanc, K | |
dc.contributor.author | Prentice, R | |
dc.contributor.author | Presneau, N | |
dc.contributor.author | Prokofyeva, D | |
dc.contributor.author | Pujana, MA | |
dc.contributor.author | Pylkäs, K | |
dc.contributor.author | Radice, P | |
dc.contributor.author | Ramus, SJ | |
dc.contributor.author | Rantala, J | |
dc.contributor.author | Rau-Murthy, R | |
dc.contributor.author | Rennert, G | |
dc.contributor.author | Risch, HA | |
dc.contributor.author | Robson, M | |
dc.contributor.author | Romero, A | |
dc.contributor.author | Rossing, M | |
dc.contributor.author | Saloustros, E | |
dc.contributor.author | Sánchez-Herrero, E | |
dc.contributor.author | Sandler, DP | |
dc.contributor.author | Santamariña, M | |
dc.contributor.author | Saunders, C | |
dc.contributor.author | Sawyer, EJ | |
dc.contributor.author | Scheuner, MT | |
dc.contributor.author | Schmidt, DF | |
dc.contributor.author | Schmutzler, RK | |
dc.contributor.author | Schneeweiss, A | |
dc.contributor.author | Schoemaker, MJ | |
dc.contributor.author | Schöttker, B | |
dc.contributor.author | Schürmann, P | |
dc.contributor.author | Scott, C | |
dc.contributor.author | Scott, RJ | |
dc.contributor.author | Senter, L | |
dc.contributor.author | Seynaeve, CM | |
dc.contributor.author | Shah, M | |
dc.contributor.author | Sharma, P | |
dc.contributor.author | Shen, C-Y | |
dc.contributor.author | Shu, X-O | |
dc.contributor.author | Singer, CF | |
dc.contributor.author | Slavin, TP | |
dc.contributor.author | Smichkoska, S | |
dc.contributor.author | Southey, MC | |
dc.contributor.author | Spinelli, JJ | |
dc.contributor.author | Spurdle, AB | |
dc.contributor.author | Stone, J | |
dc.contributor.author | Stoppa-Lyonnet, D | |
dc.contributor.author | Sutter, C | |
dc.contributor.author | Swerdlow, AJ | |
dc.contributor.author | Tamimi, RM | |
dc.contributor.author | Tan, YY | |
dc.contributor.author | Tapper, WJ | |
dc.contributor.author | Taylor, JA | |
dc.contributor.author | Teixeira, MR | |
dc.contributor.author | Tengström, M | |
dc.contributor.author | Teo, SH | |
dc.contributor.author | Terry, MB | |
dc.contributor.author | Teulé, A | |
dc.contributor.author | Thomassen, M | |
dc.contributor.author | Thull, DL | |
dc.contributor.author | Tischkowitz, M | |
dc.contributor.author | Toland, AE | |
dc.contributor.author | Tollenaar, RAEM | |
dc.contributor.author | Tomlinson, I | |
dc.contributor.author | Torres, D | |
dc.contributor.author | Torres-Mejía, G | |
dc.contributor.author | Troester, MA | |
dc.contributor.author | Truong, T | |
dc.contributor.author | Tung, N | |
dc.contributor.author | Tzardi, M | |
dc.contributor.author | Ulmer, H-U | |
dc.contributor.author | Vachon, CM | |
dc.contributor.author | van Asperen, CJ | |
dc.contributor.author | van der Kolk, LE | |
dc.contributor.author | van Rensburg, EJ | |
dc.contributor.author | Vega, A | |
dc.contributor.author | Viel, A | |
dc.contributor.author | Vijai, J | |
dc.contributor.author | Vogel, MJ | |
dc.contributor.author | Wang, Q | |
dc.contributor.author | Wappenschmidt, B | |
dc.contributor.author | Weinberg, CR | |
dc.contributor.author | Weitzel, JN | |
dc.contributor.author | Wendt, C | |
dc.contributor.author | Wildiers, H | |
dc.contributor.author | Winqvist, R | |
dc.contributor.author | Wolk, A | |
dc.contributor.author | Wu, AH | |
dc.contributor.author | Yannoukakos, D | |
dc.contributor.author | Zhang, Y | |
dc.contributor.author | Zheng, W | |
dc.contributor.author | Hunter, D | |
dc.contributor.author | Pharoah, PDP | |
dc.contributor.author | Chang-Claude, J | |
dc.contributor.author | García-Closas, M | |
dc.contributor.author | Schmidt, MK | |
dc.contributor.author | Milne, RL | |
dc.contributor.author | Kristensen, VN | |
dc.contributor.author | French, JD | |
dc.contributor.author | Edwards, SL | |
dc.contributor.author | Antoniou, AC | |
dc.contributor.author | Chenevix-Trench, G | |
dc.contributor.author | Simard, J | |
dc.contributor.author | Easton, DF | |
dc.contributor.author | Kraft, P | |
dc.contributor.author | Dunning, AM | |
dc.date.accessioned | 2020-03-02T10:40:37Z | |
dc.date.issued | 2020-01-07 | |
dc.identifier.citation | Nature genetics, 2020, 52 (1), pp. 56 - 73 | |
dc.identifier.issn | 1061-4036 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/3522 | |
dc.identifier.eissn | 1546-1718 | |
dc.identifier.doi | 10.1038/s41588-019-0537-1 | |
dc.description.abstract | Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes. | |
dc.format | Print-Electronic | |
dc.format.extent | 56 - 73 | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | NATURE PORTFOLIO | |
dc.rights.uri | https://www.rioxx.net/licenses/under-embargo-all-rights-reserved | |
dc.subject | GEMO Study Collaborators | |
dc.subject | EMBRACE Collaborators | |
dc.subject | KConFab Investigators | |
dc.subject | HEBON Investigators | |
dc.subject | ABCTB Investigators | |
dc.subject | Humans | |
dc.subject | Breast Neoplasms | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Bayes Theorem | |
dc.subject | Risk Factors | |
dc.subject | Chromosome Mapping | |
dc.subject | Regulatory Sequences, Nucleic Acid | |
dc.subject | Linkage Disequilibrium | |
dc.subject | Polymorphism, Single Nucleotide | |
dc.subject | Quantitative Trait Loci | |
dc.subject | Female | |
dc.subject | Genome-Wide Association Study | |
dc.subject | Biomarkers, Tumor | |
dc.title | Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2019-10-24 | |
rioxxterms.versionofrecord | 10.1038/s41588-019-0537-1 | |
rioxxterms.licenseref.uri | https://www.rioxx.net/licenses/under-embargo-all-rights-reserved | |
rioxxterms.licenseref.startdate | 2020-01-07 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Nature genetics | |
pubs.issue | 1 | |
pubs.notes | Not known | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Aetiological Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Complex Trait Genetics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Breast Cancer Research/Functional Genetic Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Oncogenetics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics | |
pubs.publication-status | Published | |
pubs.volume | 52 | |
pubs.embargo.terms | Not known | |
icr.researchteam | Complex Trait Genetics | |
icr.researchteam | Functional Genetic Epidemiology | |
icr.researchteam | Aetiological Epidemiology | |
icr.researchteam | Oncogenetics | |
dc.contributor.icrauthor | Fletcher, Olivia | |
dc.contributor.icrauthor | Jones, Michael | |
dc.contributor.icrauthor | Schoemaker, Minouk | |
dc.contributor.icrauthor | Swerdlow, Anthony | |