Identification of nine new susceptibility loci for endometrial cancer.
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Date
2018-08-09ICR Author
Author
O'Mara, TA
Glubb, DM
Amant, F
Annibali, D
Ashton, K
Attia, J
Auer, PL
Beckmann, MW
Black, A
Bolla, MK
Brauch, H
Brenner, H
Brinton, L
Buchanan, DD
Burwinkel, B
Chang-Claude, J
Chanock, SJ
Chen, C
Chen, MM
Cheng, THT
Clarke, CL
Clendenning, M
Cook, LS
Couch, FJ
Cox, A
Crous-Bous, M
Czene, K
Day, F
Dennis, J
Depreeuw, J
Doherty, JA
Dörk, T
Dowdy, SC
Dürst, M
Ekici, AB
Fasching, PA
Fridley, BL
Friedenreich, CM
Fritschi, L
Fung, J
García-Closas, M
Gaudet, MM
Giles, GG
Goode, EL
Gorman, M
Haiman, CA
Hall, P
Hankison, SE
Healey, CS
Hein, A
Hillemanns, P
Hodgson, S
Hoivik, EA
Holliday, EG
Hopper, JL
Hunter, DJ
Jones, A
Krakstad, C
Kristensen, VN
Lambrechts, D
Marchand, LL
Liang, X
Lindblom, A
Lissowska, J
Long, J
Lu, L
Magliocco, AM
Martin, L
McEvoy, M
Meindl, A
Michailidou, K
Milne, RL
Mints, M
Montgomery, GW
Nassir, R
Olsson, H
Orlow, I
Otton, G
Palles, C
Perry, JRB
Peto, J
Pooler, L
Prescott, J
Proietto, T
Rebbeck, TR
Risch, HA
Rogers, PAW
Rübner, M
Runnebaum, I
Sacerdote, C
Sarto, GE
Schumacher, F
Scott, RJ
Setiawan, VW
Shah, M
Sheng, X
Shu, X-O
Southey, MC
Swerdlow, AJ
Tham, E
Trovik, J
Turman, C
Tyrer, JP
Vachon, C
VanDen Berg, D
Vanderstichele, A
Wang, Z
Webb, PM
Wentzensen, N
Werner, HMJ
Winham, SJ
Wolk, A
Xia, L
Xiang, Y-B
Yang, HP
Yu, H
Zheng, W
Pharoah, PDP
Dunning, AM
Kraft, P
De Vivo, I
Tomlinson, I
Easton, DF
Spurdle, AB
Thompson, DJ
Type
Journal Article
Metadata
Show full item recordAbstract
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.
Collections
Subject
Chromatin
Humans
Endometrial Neoplasms
Genetic Predisposition to Disease
Risk Factors
Signal Transduction
Gene Frequency
Genotype
Polymorphism, Single Nucleotide
Alleles
Quantitative Trait Loci
Female
Genome-Wide Association Study
Biomarkers, Tumor
Research team
Aetiological Epidemiology
Language
eng
Date accepted
2018-07-02
License start date
2018-08-09
Citation
Nature communications, 2018, 9 (1), pp. 3166 - ?
Publisher
NATURE PUBLISHING GROUP