Back to Search
Start Over
Identification of nine new susceptibility loci for endometrial cancer
- Source :
- Nature communications, 9(1):3166. Nature Publishing Group, O’mara, T A, Glubb, D M, Amant, F, Annibali, D, Ashton, K, Attia, J, Auer, P L, Beckmann, M W, Black, A, Bolla, M K, Brauch, H, Brenner, H, Brinton, L, Buchanan, D D, Burwinkel, B, Chang-claude, J, Chanock, S J, Chen, C, Chen, M M, Cheng, T H T, Clarke, C L, Clendenning, M, Cook, L S, Couch, F J, Cox, A, Crous-bous, M, Czene, K, Day, F, Dennis, J, Depreeuw, J, Doherty, J A, Dörk, T, Dowdy, S C, Dürst, M, Ekici, A B, Fasching, P A, Fridley, B L, Friedenreich, C M, Fritschi, L, Fung, J, García-closas, M, Gaudet, M M, Giles, G G, Goode, E L, Gorman, M, Haiman, C A, Hall, P, Hankison, S E, Healey, C S, Hein, A, Hillemanns, P, Hodgson, S, Hoivik, E A, Holliday, E G, Hopper, J L, Hunter, D J, Jones, A, Krakstad, C, Kristensen, V N, Lambrechts, D, Marchand, L L, Liang, X, Lindblom, A, Lissowska, J, Long, J, Lu, L, Magliocco, A M, Martin, L, Mcevoy, M, Meindl, A, Michailidou, K, Milne, R L, Mints, M, Montgomery, G W, Nassir, R, Olsson, H, Orlow, I, Otton, G, Palles, C, Perry, J R B, Peto, J, Pooler, L, Prescott, J, Proietto, T, Rebbeck, T R, Risch, H A, Rogers, P A W, Rübner, M, Runnebaum, I, Sacerdote, C, Sarto, G E, Schumacher, F, Scott, R J, Setiawan, V W, Shah, M, Sheng, X, Shu, X, Southey, M C, Swerdlow, A J, Tham, E, Trovik, J, Turman, C, Tyrer, J P, Vachon, C, Vanden Berg, D, Vanderstichele, A, Wang, Z, Webb, P M, Wentzensen, N, Werner, H M J, Winham, S J, Wolk, A, Xia, L, Xiang, Y, Yang, H P, Yu, H, Zheng, W, Pharoah, P D P, Dunning, A M, Kraft, P, De Vivo, I, Tomlinson, I, Easton, D F, Spurdle, A B & Thompson, D J 2018, ' Identification of nine new susceptibility loci for endometrial cancer ', Nature Communications, vol. 9, no. 1 . https://doi.org/10.1038/s41467-018-05427-7, Nature Communications, Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
- Publication Year :
- 2018
-
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.<br />Endometrial cancer is the most common invasive gynaecological cancer in developed countries. Here a meta-analysis identifies an additional nine novel endometrial cancer risk loci and eQTL analysis reveals risk variants associate with reduced expression of negative regulators of oncogenic signal transduction proteins.
- Subjects :
- 0301 basic medicine
LD SCORE REGRESSION
General Physics and Astronomy
Genome-wide association study
VARIANTS
FAMILY-HISTORY
Gene Frequency
Risk Factors
Genotype
lcsh:Science
Genetics
Multidisciplinary
Chromatin
3. Good health
Multidisciplinary Sciences
MENDELIAN RANDOMIZATION
Science & Technology - Other Topics
Female
Signal Transduction
Science
Quantitative Trait Loci
Locus (genetics)
Biology
Quantitative trait locus
GENOTYPE IMPUTATION
Polymorphism, Single Nucleotide
General Biochemistry, Genetics and Molecular Biology
Article
03 medical and health sciences
Breast cancer
medicine
Biomarkers, Tumor
BREAST-CANCER
Humans
Genetic Predisposition to Disease
GENOME-WIDE ASSOCIATION
Allele frequency
METAANALYSIS
Alleles
Cancer och onkologi
Science & Technology
Endometrial cancer
General Chemistry
medicine.disease
RISK LOCI
Endometrial Neoplasms
BODY-MASS INDEX
030104 developmental biology
Cancer and Oncology
Expression quantitative trait loci
lcsh:Q
Genome-Wide Association Study
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Database :
- OpenAIRE
- Journal :
- Nature communications, 9(1):3166. Nature Publishing Group, O’mara, T A, Glubb, D M, Amant, F, Annibali, D, Ashton, K, Attia, J, Auer, P L, Beckmann, M W, Black, A, Bolla, M K, Brauch, H, Brenner, H, Brinton, L, Buchanan, D D, Burwinkel, B, Chang-claude, J, Chanock, S J, Chen, C, Chen, M M, Cheng, T H T, Clarke, C L, Clendenning, M, Cook, L S, Couch, F J, Cox, A, Crous-bous, M, Czene, K, Day, F, Dennis, J, Depreeuw, J, Doherty, J A, Dörk, T, Dowdy, S C, Dürst, M, Ekici, A B, Fasching, P A, Fridley, B L, Friedenreich, C M, Fritschi, L, Fung, J, García-closas, M, Gaudet, M M, Giles, G G, Goode, E L, Gorman, M, Haiman, C A, Hall, P, Hankison, S E, Healey, C S, Hein, A, Hillemanns, P, Hodgson, S, Hoivik, E A, Holliday, E G, Hopper, J L, Hunter, D J, Jones, A, Krakstad, C, Kristensen, V N, Lambrechts, D, Marchand, L L, Liang, X, Lindblom, A, Lissowska, J, Long, J, Lu, L, Magliocco, A M, Martin, L, Mcevoy, M, Meindl, A, Michailidou, K, Milne, R L, Mints, M, Montgomery, G W, Nassir, R, Olsson, H, Orlow, I, Otton, G, Palles, C, Perry, J R B, Peto, J, Pooler, L, Prescott, J, Proietto, T, Rebbeck, T R, Risch, H A, Rogers, P A W, Rübner, M, Runnebaum, I, Sacerdote, C, Sarto, G E, Schumacher, F, Scott, R J, Setiawan, V W, Shah, M, Sheng, X, Shu, X, Southey, M C, Swerdlow, A J, Tham, E, Trovik, J, Turman, C, Tyrer, J P, Vachon, C, Vanden Berg, D, Vanderstichele, A, Wang, Z, Webb, P M, Wentzensen, N, Werner, H M J, Winham, S J, Wolk, A, Xia, L, Xiang, Y, Yang, H P, Yu, H, Zheng, W, Pharoah, P D P, Dunning, A M, Kraft, P, De Vivo, I, Tomlinson, I, Easton, D F, Spurdle, A B & Thompson, D J 2018, ' Identification of nine new susceptibility loci for endometrial cancer ', Nature Communications, vol. 9, no. 1 . https://doi.org/10.1038/s41467-018-05427-7, Nature Communications, Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
- Accession number :
- edsair.doi.dedup.....9076370daecebdbb419d70e4a5dfc73c