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

Emma Jaeger ; Emily Webb ORCID logo ; Kimberley Howarth ; Luis Carvajal-Carmona ; Andrew Rowan ; Peter Broderick ; Axel Walther ; Sarah Spain ; Alan Pittman ; Zoe Kemp ; +25 more... Kate Sullivan ; Karl Heinimann ; Steven Lubbe ; Enric Domingo ; Ella Barclay ; Lynn Martin ; Maggie Gorman ; Ian Chandler ; Jayaram Vijayakrishnan ; Wendy Wood ; Elli Papaemmanuil ; Steven Penegar ; Mobshra Qureshi ; CORGI Consortium ; Susan Farrington ; Albert Tenesa ; Jean-Baptiste Cazier ; David Kerr ; Richard Gray ; Julian Peto ORCID logo ; Malcolm Dunlop ; Harry Campbell ; Huw Thomas ; Richard Houlston ; Ian Tomlinson ; (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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