Identification of nine new susceptibility loci for endometrial cancer

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 can...

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Main Authors:	O Mara, T., Glubb, D., Amant, F., Annibali, D., Ashton, K., Attia, J., Auer, P., Beckmann, M., Black, A., Bolla, 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-Bous, M., Czene, K., Day, F., Dennis, J., Depreeuw, J., Doherty, J., Dörk, T., Dowdy, S., Dürst, M., Ekici, A., Fasching, P., Fridley, B., Friedenreich, C., Fritschi, Lin, Fung, J., García-Closas, M., Gaudet, M., Giles, G., Goode, E., Gorman, M., Haiman, C., Hall, P., Hankison, 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., Marchand, L., Liang, X., Lindblom, A., Lissowska, J., Long, J., Lu, L., Magliocco, A., Martin, L., McEvoy, M.
Format:	Journal Article
Published:	Macmillan Publishers Limited 2018
Online Access:	http://hdl.handle.net/20.500.11937/71969

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author	O Mara, T. Glubb, D. Amant, F. Annibali, D. Ashton, K. Attia, J. Auer, P. Beckmann, M. Black, A. Bolla, 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-Bous, M. Czene, K. Day, F. Dennis, J. Depreeuw, J. Doherty, J. Dörk, T. Dowdy, S. Dürst, M. Ekici, A. Fasching, P. Fridley, B. Friedenreich, C. Fritschi, Lin Fung, J. García-Closas, M. Gaudet, M. Giles, G. Goode, E. Gorman, M. Haiman, C. Hall, P. Hankison, 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. Marchand, L. Liang, X. Lindblom, A. Lissowska, J. Long, J. Lu, L. Magliocco, A. Martin, L. McEvoy, M.
author_facet	O Mara, T. Glubb, D. Amant, F. Annibali, D. Ashton, K. Attia, J. Auer, P. Beckmann, M. Black, A. Bolla, 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-Bous, M. Czene, K. Day, F. Dennis, J. Depreeuw, J. Doherty, J. Dörk, T. Dowdy, S. Dürst, M. Ekici, A. Fasching, P. Fridley, B. Friedenreich, C. Fritschi, Lin Fung, J. García-Closas, M. Gaudet, M. Giles, G. Goode, E. Gorman, M. Haiman, C. Hall, P. Hankison, 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. Marchand, L. Liang, X. Lindblom, A. Lissowska, J. Long, J. Lu, L. Magliocco, A. Martin, L. McEvoy, M.
author_sort	O Mara, T.
building	Curtin Institutional Repository
collection	Online Access
description	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.
first_indexed	2025-11-14T10:50:30Z
format	Journal Article
id	curtin-20.500.11937-71969
institution	Curtin University Malaysia
institution_category	Local University
last_indexed	2025-11-14T10:50:30Z
publishDate	2018
publisher	Macmillan Publishers Limited
recordtype	eprints
repository_type	Digital Repository
spelling	curtin-20.500.11937-719692019-01-21T07:04:52Z 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. Bolla, 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-Bous, M. Czene, K. Day, F. Dennis, J. Depreeuw, J. Doherty, J. Dörk, T. Dowdy, S. Dürst, M. Ekici, A. Fasching, P. Fridley, B. Friedenreich, C. Fritschi, Lin Fung, J. García-Closas, M. Gaudet, M. Giles, G. Goode, E. Gorman, M. Haiman, C. Hall, P. Hankison, 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. Marchand, L. Liang, X. Lindblom, A. Lissowska, J. Long, J. Lu, L. Magliocco, A. Martin, L. McEvoy, M. 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. 2018 Journal Article http://hdl.handle.net/20.500.11937/71969 10.1038/s41467-018-05427-7 http://creativecommons.org/licenses/by/4.0/ Macmillan Publishers Limited fulltext
spellingShingle	O Mara, T. Glubb, D. Amant, F. Annibali, D. Ashton, K. Attia, J. Auer, P. Beckmann, M. Black, A. Bolla, 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-Bous, M. Czene, K. Day, F. Dennis, J. Depreeuw, J. Doherty, J. Dörk, T. Dowdy, S. Dürst, M. Ekici, A. Fasching, P. Fridley, B. Friedenreich, C. Fritschi, Lin Fung, J. García-Closas, M. Gaudet, M. Giles, G. Goode, E. Gorman, M. Haiman, C. Hall, P. Hankison, 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. Marchand, L. Liang, X. Lindblom, A. Lissowska, J. Long, J. Lu, L. Magliocco, A. Martin, L. McEvoy, M. Identification of nine new susceptibility loci for endometrial cancer
title	Identification of nine new susceptibility loci for endometrial cancer
title_full	Identification of nine new susceptibility loci for endometrial cancer
title_fullStr	Identification of nine new susceptibility loci for endometrial cancer
title_full_unstemmed	Identification of nine new susceptibility loci for endometrial cancer
title_short	Identification of nine new susceptibility loci for endometrial cancer
title_sort	identification of nine new susceptibility loci for endometrial cancer
url	http://hdl.handle.net/20.500.11937/71969

Identification of nine new susceptibility loci for endometrial cancer

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