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dc.contributor.author | Barkardottir, RB | |
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dc.contributor.author | Blomqvist, C | |
dc.contributor.author | Boeckx, B | |
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dc.contributor.author | Bojesen, SE | |
dc.contributor.author | Bolla, MK | |
dc.contributor.author | Bonanni, B | |
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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 | GC-HBOC study Collaborators, | |
dc.contributor.author | Couch, FJ | |
dc.contributor.author | Cox, A | |
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dc.contributor.author | Dörk, T | |
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dc.contributor.author | Dunning, AM | |
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dc.contributor.author | Eccles, DM | |
dc.contributor.author | Ejlertsen, B | |
dc.contributor.author | Ellberg, C | |
dc.contributor.author | Engel, C | |
dc.contributor.author | Eriksson, M | |
dc.contributor.author | Fasching, PA | |
dc.contributor.author | Fletcher, O | |
dc.contributor.author | Flyger, H | |
dc.contributor.author | Fostira, F | |
dc.contributor.author | Friedman, E | |
dc.contributor.author | Fritschi, L | |
dc.contributor.author | Frost, D | |
dc.contributor.author | Gabrielson, M | |
dc.contributor.author | Ganz, PA | |
dc.contributor.author | Gapstur, SM | |
dc.contributor.author | Garber, J | |
dc.contributor.author | García-Closas, M | |
dc.contributor.author | García-Sáenz, JA | |
dc.contributor.author | Gaudet, MM | |
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 | Greene, MH | |
dc.contributor.author | Gronwald, J | |
dc.contributor.author | Guénel, P | |
dc.contributor.author | Haiman, CA | |
dc.contributor.author | Hall, P | |
dc.contributor.author | Hamann, U | |
dc.contributor.author | Hake, C | |
dc.contributor.author | He, W | |
dc.contributor.author | Heyworth, J | |
dc.contributor.author | Hogervorst, FBL | |
dc.contributor.author | Hollestelle, A | |
dc.contributor.author | Hooning, MJ | |
dc.contributor.author | Hoover, RN | |
dc.contributor.author | Hopper, JL | |
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dc.contributor.author | Hulick, PJ | |
dc.contributor.author | Humphreys, K | |
dc.contributor.author | Imyanitov, EN | |
dc.contributor.author | ABCTB Investigators, | |
dc.contributor.author | HEBON Investigators, | |
dc.contributor.author | BCFR Investigators, | |
dc.contributor.author | OCGN Investigators, | |
dc.contributor.author | Isaacs, C | |
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dc.contributor.author | Loud, JT | |
dc.contributor.author | Lubiński, J | |
dc.contributor.author | Makalic, E | |
dc.contributor.author | Mannermaa, A | |
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dc.contributor.author | Manoukian, S | |
dc.contributor.author | Margolin, S | |
dc.contributor.author | Martens, JWM | |
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dc.contributor.author | Maurer, T | |
dc.contributor.author | Mavroudis, D | |
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dc.contributor.author | Olsson, H | |
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dc.contributor.author | Papp, J | |
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dc.contributor.author | Parsons, MT | |
dc.contributor.author | Pedersen, IS | |
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dc.contributor.author | Schmutzler, RK | |
dc.contributor.author | Schoemaker, MJ | |
dc.contributor.author | Scott, RJ | |
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dc.contributor.author | Shu, X-O | |
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dc.contributor.author | Taylor, JA | |
dc.contributor.author | Teixeira, MR | |
dc.contributor.author | Terry, MB | |
dc.contributor.author | Teulé, A | |
dc.contributor.author | Thomassen, M | |
dc.contributor.author | Thöne, K | |
dc.contributor.author | Thull, DL | |
dc.contributor.author | Tischkowitz, M | |
dc.contributor.author | Toland, AE | |
dc.contributor.author | Tollenaar, RAEM | |
dc.contributor.author | Torres, D | |
dc.contributor.author | Truong, T | |
dc.contributor.author | Tung, N | |
dc.contributor.author | Vachon, CM | |
dc.contributor.author | van Asperen, CJ | |
dc.contributor.author | van den Ouweland, AMW | |
dc.contributor.author | van Rensburg, EJ | |
dc.contributor.author | Vega, A | |
dc.contributor.author | Viel, A | |
dc.contributor.author | Vieiro-Balo, P | |
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 | Winqvist, R | |
dc.contributor.author | Yang, XR | |
dc.contributor.author | Yannoukakos, D | |
dc.contributor.author | Ziogas, A | |
dc.contributor.author | Milne, RL | |
dc.contributor.author | Easton, DF | |
dc.contributor.author | Chenevix-Trench, G | |
dc.contributor.author | Zheng, W | |
dc.contributor.author | Kraft, P | |
dc.contributor.author | Jiang, X | |
dc.date.accessioned | 2020-04-02T15:12:31Z | |
dc.date.issued | 2020-07-01 | |
dc.identifier.citation | Genetic epidemiology, 2020, 44 (5), pp. 442 - 468 | |
dc.identifier.issn | 0741-0395 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/3578 | |
dc.identifier.eissn | 1098-2272 | |
dc.identifier.doi | 10.1002/gepi.22288 | |
dc.description.abstract | Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer. | |
dc.format | Print-Electronic | |
dc.format.extent | 442 - 468 | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | WILEY | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.subject | GEMO Study Collaborators | |
dc.subject | EMBRACE Collaborators | |
dc.subject | GC-HBOC study Collaborators | |
dc.subject | ABCTB Investigators | |
dc.subject | HEBON Investigators | |
dc.subject | BCFR Investigators | |
dc.subject | OCGN Investigators | |
dc.subject | Humans | |
dc.subject | Breast Neoplasms | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Vesicular Transport Proteins | |
dc.subject | Receptors, Estrogen | |
dc.subject | Estrogens | |
dc.subject | Risk Assessment | |
dc.subject | Genomics | |
dc.subject | Female | |
dc.subject | Genome-Wide Association Study | |
dc.subject | Transcriptome | |
dc.title | Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2020-02-13 | |
rioxxterms.versionofrecord | 10.1002/gepi.22288 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.licenseref.startdate | 2020-07 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Genetic epidemiology | |
pubs.issue | 5 | |
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/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Aetiological Epidemiology | |
pubs.publication-status | Published | |
pubs.volume | 44 | |
pubs.embargo.terms | Not known | |
icr.researchteam | Aetiological Epidemiology | |
dc.contributor.icrauthor | Fletcher, Olivia | |
dc.contributor.icrauthor | Schoemaker, Minouk | |