TY - JOUR
T1 - Relationship between 16 susceptibility loci and colorectal cancer phenotype in 3146 patients
AU - Lubbe, Steven J.
AU - Whiffin, Nicola
AU - Chandler, Ian
AU - Broderick, Peter
AU - Houlston, Richard S.
N1 - Funding Information:
Cancer Research UK (Cl298/A8362—Bobby Moore Fund for Cancer Research, UK, and a PhD studentship to S.L.); a Centre grant from CORE as part of the Digestive Cancer Campaign, the National Cancer Research Network and the National Health Service via the Biological Research Centre of the National Institute for Health Research at the Royal Marsden Hospital National Health Service Trust; a St George’s Hospital Medical School (Clinical Research Training Fellowship to Ian Chandler); Institute of Cancer Research (a PhD Studentship to N.W.).
PY - 2012/1
Y1 - 2012/1
N2 - Recent genome-wide association studies have identified single-nucleotide polymorphisms at 16 genetic loci associated with colorectal cancer risk: rs6691170 (1q41), rs10936599 (3q26.2), rs16892766 (8q23.3), rs6983267 (8q24.21), rs10795668 (10p14), rs3802842 (11q23.1), rs11169552 (12q13.13), rs4444235, rs1957636 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q22.1), rs4939827 (18q21.1), rs10411210 (19q13.11), rs961253 and rs4813802 (20p12.3) and rs4925386 (20q13.33). In the present study, we examined whether these variants are preferentially associated with tumour subtype-tumour site, stage, degree of differentiation and microsatellite instability status-in 3146 patients. Several loci showed statistically significant associations with specific phenotypes notably rs6691170 and rs3802842 associated with microsatellite stable rectal disease; rs4779584, rs961253 and rs4813802 associated with microsatellite stable colonic disease and rs4444235 and rs4925386 with microsatellite instability colonic disease. These findings are consistent with pathogenic variants in loci differentially impacting on distinct morphogenetic pathways consistent with aetiologically different risk factors in the development of colorectal cancer.
AB - Recent genome-wide association studies have identified single-nucleotide polymorphisms at 16 genetic loci associated with colorectal cancer risk: rs6691170 (1q41), rs10936599 (3q26.2), rs16892766 (8q23.3), rs6983267 (8q24.21), rs10795668 (10p14), rs3802842 (11q23.1), rs11169552 (12q13.13), rs4444235, rs1957636 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q22.1), rs4939827 (18q21.1), rs10411210 (19q13.11), rs961253 and rs4813802 (20p12.3) and rs4925386 (20q13.33). In the present study, we examined whether these variants are preferentially associated with tumour subtype-tumour site, stage, degree of differentiation and microsatellite instability status-in 3146 patients. Several loci showed statistically significant associations with specific phenotypes notably rs6691170 and rs3802842 associated with microsatellite stable rectal disease; rs4779584, rs961253 and rs4813802 associated with microsatellite stable colonic disease and rs4444235 and rs4925386 with microsatellite instability colonic disease. These findings are consistent with pathogenic variants in loci differentially impacting on distinct morphogenetic pathways consistent with aetiologically different risk factors in the development of colorectal cancer.
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U2 - 10.1093/carcin/bgr243
DO - 10.1093/carcin/bgr243
M3 - Article
C2 - 22045029
AN - SCOPUS:84855381933
SN - 0143-3334
VL - 33
SP - 108
EP - 112
JO - Carcinogenesis
JF - Carcinogenesis
IS - 1
ER -
