Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk.

Jaeger, E; Webb, EORCID logo; Howarth, K; Carvajal-Carmona, L; Rowan, A; Broderick, P; Walther, A; Spain, S; Pittman, A; Kemp, Z; +25 more...Sullivan, K; Heinimann, K; Lubbe, S; Domingo, E; Barclay, E; Martin, L; Gorman, M; Chandler, I; Vijayakrishnan, J; Wood, W; Papaemmanuil, E; Penegar, S; Qureshi, M; CORGI Consortium; Farrington, S; Tenesa, A; Cazier, J; Kerr, D; Gray, R; Peto, JORCID logo; Dunlop, M; Campbell, H; Thomas, H; Houlston, R; Tomlinson, I and (2008) Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nature genetics, 40 (1). pp. 26-28. ISSN 1061-4036 DOI: 10.1038/ng.2007.41
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We mapped a high-penetrance gene (CRAC1; also known as HMPS) associated with colorectal cancer (CRC) in the Ashkenazi population to a 0.6-Mb region on chromosome 15 containing SCG5 (also known as SGNE1), GREM1 and FMN1. We hypothesized that the CRAC1 locus harbored low-penetrance variants that increased CRC risk in the general population. In a large series of colorectal cancer cases and controls, SNPs near GREM1 and SCG5 were strongly associated with increased CRC risk (for rs4779584, P = 4.44 x 10(-14)).

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