DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Colorectal or endometrial cancer. The EFO term colorectal cancer, endometrial neoplasm was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: colorectal cancer, endometrial neoplasm

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

TH Cheng, D Thompson, J Painter, T O'Mara, M Gorman, L Martin, C Palles, A Jones, DD Buchanan, A Ko Win, J Hopper, M Jenkins, NM Lindor, PA Newcomb, S Gallinger, D Conti, F Schumacher, G Casey, GG Giles, P Pharoah, J Peto, A Cox, A Swerdlow, F Couch, JM Cunningham, EL Goode, SJ Winham, D Lambrechts, P Fasching, B Burwinkel, H Brenner, H Brauch, J Chang-Claude, HB Salvesen, V Kristensen, H Darabi, J Li, T Liu, A Lindblom, P Hall, ME de Polanco, M Sans, A Carracedo, S Castellvi-Bel, A Rojas-Martinez, S Aguiar Jnr, MR Teixeira, AM Dunning, J Dennis, G Otton, T Proietto, E Holliday, J Attia, K Ashton, RJ Scott, M McEvoy, SC Dowdy, BL Fridley, HM Werner, J Trovik, TS Njolstad, E Tham, M Mints, I Runnebaum, P Hillemanns, T Dörk, F Amant, S Schrauwen, A Hein, MW Beckmann, A Ekici, K Czene, A Meindl, MK Bolla, K Michailidou, JP Tyrer, Q Wang, S Ahmed, CS Healey, M Shah, D Annibali, J Depreeuw, NA Al-Tassan, R Harris, BF Meyer, N Whiffin, FJ Hosking, B Kinnersley, SM Farrington, M Timofeeva, A Tenesa, H Campbell, RW Haile, S Hodgson, L Carvajal-Carmona, JP Cheadle, D Easton, M Dunlop, R Houlston, A Spurdle, I Tomlinson

TITLE:

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

JOURNAL:

Scientific reports Dec 2015, Vol 5, pp. 17369

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. PUBMED: 26621817
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