SORA

Advancing, promoting and sharing knowledge of health through excellence in teaching, clinical practice and research into the prevention and treatment of illness

Identification of nine new susceptibility loci for endometrial cancer

O'Mara, T; Glubb, D; Amant, F; Annibali, D; Ashton, K; Attia, J; Auer, P; Beckmann, M; Black, A; Humphreys, M; et al. O'Mara, T; Glubb, D; Amant, F; Annibali, D; Ashton, K; Attia, J; Auer, P; Beckmann, M; Black, A; Humphreys, M; Brauch, H; Brenner, H; Brinton, L; Buchanan, D; Burwinkel, B; Chang-Claude, J; Chanock, S; Chen, C; Chen, M; Cheng, T; Clarke, C; Clendenning, M; Cook, L; Couch, F; Cox, A; Crous-Bou, M; Czene, K; Day, F; Dennis, J; Depreeuw, J; Doherty, JA; Dork, T; Dowdy, S; Dürst, M; Ekici, A; Fasching, P; Fridley, B; Friedenreich, C; Fritschi, L; Fung, J; Garcia-Closas, M; Gaudet, M; Giles, G; Goode, E; Gorman, M; Haiman, C; Hall, P; Hankinson, S; Healey, C; Hein, A; Hillemanns, P; Hodgson, S; Hoivik, E; Holliday, E; Hopper, J; Hunter, D; Jones, A; Krakstad, C; Kristensen, V; Lambrechts, D; Le Marchand, L; Liang, X; Lindblom, A; Lissowska, J; Long, J; Lu, L; Magliocco, A; Martin, L; McEvoy, M; Meindl, A; Michailidou, K; Milne, R; Mints, M; Montgomery, G; Nassir, R; Olsson, H; Orlow, I; Sacerdote, G; Sarto, G; Schumacher, F; Scott, R; Setiawan, VW; Shah, M; Sheng, M; Shu, X-O; Southey, M; Swerdlow, A; Tham, E; Trovik, J; Wolk, A; Xia, L; Xiang, YB; Yang, H; Yu, H; Zheng, W; Pharoah, P; Dunning, A; Kraft, P; De Vivo, I; Tomlinson, I; Easton, D; Spurdle, A; Thompson, D (2018) Identification of nine new susceptibility loci for endometrial cancer. Nature Communications, 9. p. 3166. ISSN 2041-1723 https://doi.org/10.1038/s41467-018-05427-7
SGUL Authors: Hodgson, Shirley Victoria

[img]
Preview
PDF Published Version
Available under License Creative Commons Attribution.

Download (1MB) | Preview

Abstract

Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial cancer. Here, we present an expanded meta-analysis of 12,906 endometrial cancer cases and 108,979 controls (including new genotype data for 5624 cases) and identify nine novel genome-wide significant loci, including a locus on 12q24.12 previously identified by meta-GWAS of endometrial and colorectal cancer. At five loci, expression quantitative trait locus (eQTL) analyses identify candidate causal genes; risk alleles at two of these loci associate with decreased expression of genes, which encode negative regulators of oncogenic signal transduction proteins (SH2B3 (12q24.12) and NF1 (17q11.2)). In summary, this study has doubled the number of known endometrial cancer risk loci and revealed candidate causal genes for future study.

Item Type: Article
Additional Information: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. © The Author(s) 2018
Keywords: MD Multidisciplinary
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS)
Journal or Publication Title: Nature Communications
ISSN: 2041-1723
Dates:
DateEvent
9 August 2018Published
2 July 2018Accepted
Publisher License: Creative Commons: Attribution 4.0
Projects:
Project IDFunderFunder ID
C1287/A10118Cancer Research UKhttp://dx.doi.org/10.13039/501100000289
C1287/A10710Cancer Research UKhttp://dx.doi.org/10.13039/501100000289
C12292/A11174Cancer Research UKhttp://dx.doi.org/10.13039/501100000289
C1281/A12014Cancer Research UKhttp://dx.doi.org/10.13039/501100000289
C5047/A8384Cancer Research UKhttp://dx.doi.org/10.13039/501100000289
C5047/A15007Cancer Research UKhttp://dx.doi.org/10.13039/501100000289
C5047/A10692Cancer Research UKhttp://dx.doi.org/10.13039/501100000289
C8197/A16565Cancer Research UKhttp://dx.doi.org/10.13039/501100000289
C1287/A16563Cancer Research UKhttp://dx.doi.org/10.13039/501100000289
C490/A10124Cancer Research UKhttp://dx.doi.org/10.13039/501100000289
G0000934Medical Research Councilhttp://dx.doi.org/10.13039/501100000265
068545/Z/02Wellcome Trusthttp://dx.doi.org/10.13039/100004440
085475Wellcome Trusthttp://dx.doi.org/10.13039/100004440
090532/Z/09ZWellcome Trusthttp://dx.doi.org/10.13039/100004440
URI: https://openaccess.sgul.ac.uk/id/eprint/110042
Publisher's version: https://doi.org/10.1038/s41467-018-05427-7

Actions (login required)

Edit Item Edit Item