Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.070 GeneticVariation BEFREE A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 families enrolled in the Colon Cancer Family Registry, were genotyped for the single nucleotide polymorphisms (SNPs): rs16892766 (8q23.3), rs6983267 (8q24.21), rs719725 (9p24), rs10795668 (10p14), rs3802842 (11q23.1), rs4444235 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q22.1), rs4939827 (18q21.1), rs10411210 (19q13.1) and rs961253 (20p12.3). 23434150 2013
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.070 GeneticVariation BEFREE The two SNPs did not influence the development of distant metastases of colon cancer; rs6983267 showed a mild effect on breast cancer. 22666420 2012
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.070 GeneticVariation BEFREE Rectal tumors were significantly associated with rs4939827 (OR = 4.85, P = 0.002) and rs6983267 (OR = 3.00, P = 0.036), suggesting that carriers of risk alleles at these loci had increased susceptibility to development of rectal cancer rather than colon cancer. 22457859 2012
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.070 GeneticVariation BEFREE This result replicates previous reports of association between rs6983267 and prostate and colon cancer. 22142333 2011
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.070 GeneticVariation BEFREE The combined results for our two studies of colon cancer showed an OR of 1.10 (95% CI: 1.01-1.20, Ptrend = 0.023), and a meta-analysis of our results with previously reported studies of colon and colorectal cancer strongly support the association for this SNP (combined OR for rs6983267 = 1.21, 95% CI: 1.18-1.24, p = 5.5 × 10-44). 21129217 2010
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.070 GeneticVariation BEFREE We observed significant associations with colon cancer risk with markers rs13254738 (ordinal odds ratio, 0.82; 95% confidence interval, 0.072-0.94; P(trend) = 0.0037) and rs6983267 (ordinal odds ratio, 1.17; 95% confidence interval, 1.03-1.32, P(trend) = 0.013). 19690179 2009
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.070 GeneticVariation BEFREE These data replicate the association identified from recent studies, providing additional evidence supporting the rs6983267 genetic polymorphism as a marker predisposing to colon cancer. 18268117 2008