dc.contributor.author | Cheng, TH | |
dc.contributor.author | Thompson, DJ | |
dc.contributor.author | O'Mara, TA | |
dc.contributor.author | Painter, JN | |
dc.contributor.author | Glubb, DM | |
dc.contributor.author | Flach, S | |
dc.contributor.author | Lewis, A | |
dc.contributor.author | French, JD | |
dc.contributor.author | Freeman-Mills, L | |
dc.contributor.author | Church, D | |
dc.contributor.author | Gorman, M | |
dc.contributor.author | Martin, L | |
dc.contributor.author | National Study of Endometrial Cancer Genetics Group (NSECG), | |
dc.contributor.author | Hodgson, S | |
dc.contributor.author | Webb, PM | |
dc.contributor.author | Australian National Endometrial Cancer Study Group (ANECS), | |
dc.contributor.author | Attia, J | |
dc.contributor.author | Holliday, EG | |
dc.contributor.author | McEvoy, M | |
dc.contributor.author | Scott, RJ | |
dc.contributor.author | Henders, AK | |
dc.contributor.author | Martin, NG | |
dc.contributor.author | Montgomery, GW | |
dc.contributor.author | Nyholt, DR | |
dc.contributor.author | Ahmed, S | |
dc.contributor.author | Healey, CS | |
dc.contributor.author | Shah, M | |
dc.contributor.author | Dennis, J | |
dc.contributor.author | Fasching, PA | |
dc.contributor.author | Beckmann, MW | |
dc.contributor.author | Hein, A | |
dc.contributor.author | Ekici, AB | |
dc.contributor.author | Hall, P | |
dc.contributor.author | Czene, K | |
dc.contributor.author | Darabi, H | |
dc.contributor.author | Li, J | |
dc.contributor.author | Dörk, T | |
dc.contributor.author | Dürst, M | |
dc.contributor.author | Hillemanns, P | |
dc.contributor.author | Runnebaum, I | |
dc.contributor.author | Amant, F | |
dc.contributor.author | Schrauwen, S | |
dc.contributor.author | Zhao, H | |
dc.contributor.author | Lambrechts, D | |
dc.contributor.author | Depreeuw, J | |
dc.contributor.author | Dowdy, SC | |
dc.contributor.author | Goode, EL | |
dc.contributor.author | Fridley, BL | |
dc.contributor.author | Winham, SJ | |
dc.contributor.author | Njølstad, TS | |
dc.contributor.author | Salvesen, HB | |
dc.contributor.author | Trovik, J | |
dc.contributor.author | Werner, HM | |
dc.contributor.author | Ashton, K | |
dc.contributor.author | Otton, G | |
dc.contributor.author | Proietto, T | |
dc.contributor.author | Liu, T | |
dc.contributor.author | Mints, M | |
dc.contributor.author | Tham, E | |
dc.contributor.author | RENDOCAS, | |
dc.contributor.author | Consortium, C | |
dc.contributor.author | Jun Li, M | |
dc.contributor.author | Yip, SH | |
dc.contributor.author | Wang, J | |
dc.contributor.author | Bolla, MK | |
dc.contributor.author | Michailidou, K | |
dc.contributor.author | Wang, Q | |
dc.contributor.author | Tyrer, JP | |
dc.contributor.author | Dunlop, M | |
dc.contributor.author | Houlston, R | |
dc.contributor.author | Palles, C | |
dc.contributor.author | Hopper, JL | |
dc.contributor.author | AOCS Group, | |
dc.contributor.author | Peto, J | |
dc.contributor.author | Swerdlow, AJ | |
dc.contributor.author | Burwinkel, B | |
dc.contributor.author | Brenner, H | |
dc.contributor.author | Meindl, A | |
dc.contributor.author | Brauch, H | |
dc.contributor.author | Lindblom, A | |
dc.contributor.author | Chang-Claude, J | |
dc.contributor.author | Couch, FJ | |
dc.contributor.author | Giles, GG | |
dc.contributor.author | Kristensen, VN | |
dc.contributor.author | Cox, A | |
dc.contributor.author | Cunningham, JM | |
dc.contributor.author | Pharoah, PDP | |
dc.contributor.author | Dunning, AM | |
dc.contributor.author | Edwards, SL | |
dc.contributor.author | Easton, DF | |
dc.contributor.author | Tomlinson, I | |
dc.contributor.author | Spurdle, AB | |
dc.date.accessioned | 2016-10-14T15:55:48Z | |
dc.date.issued | 2016-06-01 | |
dc.identifier.citation | Nature genetics, 2016, 48 (6), pp. 667 - 674 | |
dc.identifier.issn | 1061-4036 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/169 | |
dc.identifier.eissn | 1546-1718 | |
dc.identifier.doi | 10.1038/ng.3562 | |
dc.description.abstract | We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation and meta-analysis identified five new risk loci of genome-wide significance at likely regulatory regions on chromosomes 13q22.1 (rs11841589, near KLF5), 6q22.31 (rs13328298, in LOC643623 and near HEY2 and NCOA7), 8q24.21 (rs4733613, telomeric to MYC), 15q15.1 (rs937213, in EIF2AK4, near BMF) and 14q32.33 (rs2498796, in AKT1, near SIVA1). We also found a second independent 8q24.21 signal (rs17232730). Functional studies of the 13q22.1 locus showed that rs9600103 (pairwise r(2) = 0.98 with rs11841589) is located in a region of active chromatin that interacts with the KLF5 promoter region. The rs9600103[T] allele that is protective in endometrial cancer suppressed gene expression in vitro, suggesting that regulation of the expression of KLF5, a gene linked to uterine development, is implicated in tumorigenesis. These findings provide enhanced insight into the genetic and biological basis of endometrial cancer. | |
dc.format | Print-Electronic | |
dc.format.extent | 667 - 674 | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | NATURE PORTFOLIO | |
dc.subject | National Study of Endometrial Cancer Genetics Group (NSECG) | |
dc.subject | Australian National Endometrial Cancer Study Group (ANECS) | |
dc.subject | RENDOCAS | |
dc.subject | AOCS Group | |
dc.subject | Chromosomes, Human, Pair 8 | |
dc.subject | Humans | |
dc.subject | Endometrial Neoplasms | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Polymorphism, Single Nucleotide | |
dc.subject | Female | |
dc.subject | Promoter Regions, Genetic | |
dc.subject | Genome-Wide Association Study | |
dc.title | Five endometrial cancer risk loci identified through genome-wide association analysis. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2016-04-08 | |
rioxxterms.versionofrecord | 10.1038/ng.3562 | |
rioxxterms.licenseref.startdate | 2016-06 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Nature genetics | |
pubs.issue | 6 | |
pubs.notes | No embargo | |
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.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics | |
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.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics | |
pubs.publication-status | Published | |
pubs.volume | 48 | |
pubs.embargo.terms | No embargo | |
pubs.oa-location | http://www.nature.com/ng/journal/v48/n6/pdf/ng.3562.pdf | |
icr.researchteam | Aetiological Epidemiology | |
icr.researchteam | Cancer Genomics | |
dc.contributor.icrauthor | Houlston, Richard | |
dc.contributor.icrauthor | Swerdlow, Anthony | |