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Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1
- Source :
- Scientific reports, 5. Nature Publishing Group, Scientific Reports, Cheng, T H, Thompson, D, Painter, J, O'Mara, T, Gorman, M, Martin, L, Palles, C, Jones, A, Buchanan, D D, Ko Win, A, Hopper, J, Jenkins, M, Lindor, N M, Newcomb, P A, Gallinger, S, Conti, D, Schumacher, F, Casey, G, Giles, G G, Pharoah, P, Peto, J, Cox, A, Swerdlow, A, Couch, F, Cunningham, J M, Goode, E L, Winham, S J, Lambrechts, D, Fasching, P, Burwinkel, B, Brenner, H, Brauch, H, Chang-Claude, J, Salvesen, H B, Kristensen, V, Darabi, H, Li, J, Liu, T, Lindblom, A, Hall, P, de Polanco, M E, Sans, M, Carracedo, A, Castellvi-Bel, S, Rojas-Martinez, A, Aguiar Jnr, S, Teixeira, M R, Dunning, A M, Dennis, J, Otton, G, Proietto, T, Holliday, E, Attia, J, Ashton, K, Scott, R J, McEvoy, M, Dowdy, S C, Fridley, B L, Werner, H M, Trovik, J, Njolstad, T S, Tham, E, Mints, M, Runnebaum, I, Hillemanns, P, Dörk, T, Amant, F, Schrauwen, S, Hein, A, Beckmann, M W, Ekici, A, Czene, K, Meindl, A, Bolla, M K, Michailidou, K, Tyrer, J P, Wang, Q, Ahmed, S, Healey, C S, Shah, M, Annibali, D, Depreeuw, J, Al-Tassan, N A, Harris, R, Meyer, B F, Whiffin, N, Hosking, F J, Kinnersley, B, Farrington, S M, Timofeeva, M, Tenesa, A, Campbell, H, Haile, R W, Hodgson, S, Carvajal-Carmona, L, Cheadle, J P, Easton, D, Dunlop, M, Houlston, R, Spurdle, A & Tomlinson, I 2015, ' Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1 ', Scientific Reports, vol. 5, 17369 . https://doi.org/10.1038/srep17369
- Publication Year :
- 2015
-
Abstract
- High-risk mutations in several genes predispose to both colorectal cancer (CRC) and endometrial cancer (EC). We therefore hypothesised that some lower-risk genetic variants might also predispose to both CRC and EC. Using CRC and EC genome-wide association series, totalling 13,265 cancer cases and 40,245 controls, we found that the protective allele [G] at one previously-identified CRC polymorphism, rs2736100 near TERT, was associated with EC risk (odds ratio (OR) = 1.08, P = 0.000167); this polymorphism influences the risk of several other cancers. A further CRC polymorphism near TERC also showed evidence of association with EC (OR = 0.92; P = 0.03). Overall, however, there was no good evidence that the set of CRC polymorphisms was associated with EC risk, and neither of two previously-reported EC polymorphisms was associated with CRC risk. A combined analysis revealed one genome-wide significant polymorphism, rs3184504, on chromosome 12q24 (OR = 1.10, P = 7.23 × 10(-9)) with shared effects on CRC and EC risk. This polymorphism, a missense variant in the gene SH2B3, is also associated with haematological and autoimmune disorders, suggesting that it influences cancer risk through the immune response. Another polymorphism, rs12970291 near gene TSHZ1, was associated with both CRC and EC (OR = 1.26, P = 4.82 × 10(-8)), with the alleles showing opposite effects on the risks of the two cancers. ispartof: Scientific Reports vol:5 pages:17369- ispartof: location:England status: published
- Subjects :
- Male
CARCINOMA
MICROSATELLITE INSTABILITY
DNA-POLYMERASE
LOCI
MTHFR C677T
VARIANTS
LYNCH-SYNDROME
Article
BREAST-CANCER
Humans
Genetic Predisposition to Disease
Alleles
Adaptor Proteins, Signal Transducing
RISK
Homeodomain Proteins
Science & Technology
Polymorphism, Genetic
MUTATIONS
Intracellular Signaling Peptides and Proteins
Proteins
Endometrial Neoplasms
Neoplasm Proteins
Multidisciplinary Sciences
Repressor Proteins
Science & Technology - Other Topics
Female
Colorectal Neoplasms
Genome-Wide Association Study
Subjects
Details
- Language :
- English
- ISSN :
- 20452322
- Database :
- OpenAIRE
- Journal :
- Scientific reports, 5. Nature Publishing Group, Scientific Reports, Cheng, T H, Thompson, D, Painter, J, O'Mara, T, Gorman, M, Martin, L, Palles, C, Jones, A, Buchanan, D D, Ko Win, A, Hopper, J, Jenkins, M, Lindor, N M, Newcomb, P A, Gallinger, S, Conti, D, Schumacher, F, Casey, G, Giles, G G, Pharoah, P, Peto, J, Cox, A, Swerdlow, A, Couch, F, Cunningham, J M, Goode, E L, Winham, S J, Lambrechts, D, Fasching, P, Burwinkel, B, Brenner, H, Brauch, H, Chang-Claude, J, Salvesen, H B, Kristensen, V, Darabi, H, Li, J, Liu, T, Lindblom, A, Hall, P, de Polanco, M E, Sans, M, Carracedo, A, Castellvi-Bel, S, Rojas-Martinez, A, Aguiar Jnr, S, Teixeira, M R, Dunning, A M, Dennis, J, Otton, G, Proietto, T, Holliday, E, Attia, J, Ashton, K, Scott, R J, McEvoy, M, Dowdy, S C, Fridley, B L, Werner, H M, Trovik, J, Njolstad, T S, Tham, E, Mints, M, Runnebaum, I, Hillemanns, P, Dörk, T, Amant, F, Schrauwen, S, Hein, A, Beckmann, M W, Ekici, A, Czene, K, Meindl, A, Bolla, M K, Michailidou, K, Tyrer, J P, Wang, Q, Ahmed, S, Healey, C S, Shah, M, Annibali, D, Depreeuw, J, Al-Tassan, N A, Harris, R, Meyer, B F, Whiffin, N, Hosking, F J, Kinnersley, B, Farrington, S M, Timofeeva, M, Tenesa, A, Campbell, H, Haile, R W, Hodgson, S, Carvajal-Carmona, L, Cheadle, J P, Easton, D, Dunlop, M, Houlston, R, Spurdle, A & Tomlinson, I 2015, ' Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1 ', Scientific Reports, vol. 5, 17369 . https://doi.org/10.1038/srep17369
- Accession number :
- edsair.pmid.dedup....5b75206639aba75ebc46825f9288911c