Identification of nine new susceptibility loci for endometrial cancer.
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ICR Authors
Authors
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
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
Document Type
Journal Article
Date
2018-08-09
Date Accepted
2018-07-02
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.
Citation
Nature communications, 2018, 9 (1), pp. 3166 - ?
Source Title
Publisher
NATURE PUBLISHING GROUP
ISSN
2041-1723
eISSN
2041-1723
Research Team
Aetiological Epidemiology