Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
TT 0.770 GeneticVariation CLINVAR To investigate the cause of the limited therapeutic effect of PLX4032 in BRAF(V600E) mutant colon tumours, here we performed an RNA-interference-based genetic screen in human cells to search for kinases whose knockdown synergizes with BRAF(V600E) inhibition. 22281684

2012

dbSNP: rs397517132
rs397517132
0.020 GeneticVariation BEFREE To investigate the cause of the limited therapeutic effect of PLX4032 in BRAF(V600E) mutant colon tumours, here we performed an RNA-interference-based genetic screen in human cells to search for kinases whose knockdown synergizes with BRAF(V600E) inhibition. 22281684

2012

dbSNP: rs121912665
rs121912665
0.010 GeneticVariation BEFREE Germline TP53 mutation c.566C>T results in the missense mutation GCC (Ala) to GTC (Val) at codon 189 (A189V) and has been reported in a case of multiple primary colon tumors. 23667851

2013

dbSNP: rs1057519803
rs1057519803
A 0.700 GeneticVariation CLINVAR Oncogenic ERBB3 mutations in human cancers. 23680147

2013

dbSNP: rs2010963
rs2010963
0.010 GeneticVariation BEFREE After stratifying by tumor molecular subtype, SNP associations observed for colon cancer were: VEGFA rs2010963 with CIMP+ colon tumors; FLT1 rs4771249 and rs7987649 with TP53; FLT1 rs3751397, rs7337610, rs7987649, and rs9513008 and KDR rs10020464, rs11941492, and rs12498529 with MSI+ and CIMP+/KRAS2-mutated tumors. 23794399

2014

dbSNP: rs4771249
rs4771249
0.010 GeneticVariation BEFREE After stratifying by tumor molecular subtype, SNP associations observed for colon cancer were: VEGFA rs2010963 with CIMP+ colon tumors; FLT1 rs4771249 and rs7987649 with TP53; FLT1 rs3751397, rs7337610, rs7987649, and rs9513008 and KDR rs10020464, rs11941492, and rs12498529 with MSI+ and CIMP+/KRAS2-mutated tumors. 23794399

2014

dbSNP: rs7987649
rs7987649
0.010 GeneticVariation BEFREE After stratifying by tumor molecular subtype, SNP associations observed for colon cancer were: VEGFA rs2010963 with CIMP+ colon tumors; FLT1 rs4771249 and rs7987649 with TP53; FLT1 rs3751397, rs7337610, rs7987649, and rs9513008 and KDR rs10020464, rs11941492, and rs12498529 with MSI+ and CIMP+/KRAS2-mutated tumors. 23794399

2014

dbSNP: rs113488022
rs113488022
0.770 GeneticVariation BEFREE In conclusion, BRAF (p.V600E) colon tumors showed significant MEIS1 promoter methylation, which was associated with decreased MEIS1 gene expression. 24244575

2013

dbSNP: rs121913377
rs121913377
0.770 GeneticVariation BEFREE In conclusion, BRAF (p.V600E) colon tumors showed significant MEIS1 promoter methylation, which was associated with decreased MEIS1 gene expression. 24244575

2013

dbSNP: rs113488022
rs113488022
0.770 GeneticVariation BEFREE A CIMP(+)/BRAF(V600E)/MLH1(-) phenotype was found in 3/4 right colon tumors. 24503755

2014

dbSNP: rs121913377
rs121913377
0.770 GeneticVariation BEFREE A CIMP(+)/BRAF(V600E)/MLH1(-) phenotype was found in 3/4 right colon tumors. 24503755

2014

dbSNP: rs397517132
rs397517132
0.020 GeneticVariation BEFREE A CIMP(+)/BRAF(V600E)/MLH1(-) phenotype was found in 3/4 right colon tumors. 24503755

2014

dbSNP: rs113488022
rs113488022
T 0.770 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913377
rs121913377
TT 0.770 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs113488022
rs113488022
0.770 GeneticVariation BEFREE dMMR and BRAF V600E mutations were identified in 31 of 208 (14.9%) and 23 of 211 (10.9%) tumors, respectively. dMMR was more commonly found in patients with primary colon tumors rather than rectal cancer (20.4% vs 7.6%, P =0.01), but there was no difference in MMR status between the right-sided and left-sided colon tumors (20.8% vs 34.6%, P = 0.24). dMMR was associated with early-stage rather than metastatic disease (17.3% vs 0%, P = 0.015). 25624727

2015

dbSNP: rs121913377
rs121913377
0.770 GeneticVariation BEFREE dMMR and BRAF V600E mutations were identified in 31 of 208 (14.9%) and 23 of 211 (10.9%) tumors, respectively. dMMR was more commonly found in patients with primary colon tumors rather than rectal cancer (20.4% vs 7.6%, P =0.01), but there was no difference in MMR status between the right-sided and left-sided colon tumors (20.8% vs 34.6%, P = 0.24). dMMR was associated with early-stage rather than metastatic disease (17.3% vs 0%, P = 0.015). 25624727

2015

dbSNP: rs1064793236
rs1064793236
0.010 GeneticVariation BEFREE In the colon tumor of the proband, MLH1 and PMS2 expression was completely lost as a consequence of a pathogenic somatic point mutation (MLH1 c.199G>A, p.Gly67Arg) that also abrogated local methylation by destroying a CpG site. 25742745

2015

dbSNP: rs587778966
rs587778966
0.010 GeneticVariation BEFREE In the colon tumor of the proband, MLH1 and PMS2 expression was completely lost as a consequence of a pathogenic somatic point mutation (MLH1 c.199G>A, p.Gly67Arg) that also abrogated local methylation by destroying a CpG site. 25742745

2015

dbSNP: rs587780053
rs587780053
0.010 GeneticVariation BEFREE In the colon tumor of the proband, MLH1 and PMS2 expression was completely lost as a consequence of a pathogenic somatic point mutation (MLH1 c.199G>A, p.Gly67Arg) that also abrogated local methylation by destroying a CpG site. 25742745

2015

dbSNP: rs63750206
rs63750206
0.010 GeneticVariation BEFREE In the colon tumor of the proband, MLH1 and PMS2 expression was completely lost as a consequence of a pathogenic somatic point mutation (MLH1 c.199G>A, p.Gly67Arg) that also abrogated local methylation by destroying a CpG site. 25742745

2015

dbSNP: rs730881913
rs730881913
0.010 GeneticVariation BEFREE In the colon tumor of the proband, MLH1 and PMS2 expression was completely lost as a consequence of a pathogenic somatic point mutation (MLH1 c.199G>A, p.Gly67Arg) that also abrogated local methylation by destroying a CpG site. 25742745

2015

dbSNP: rs768824654
rs768824654
0.010 GeneticVariation BEFREE In the colon tumor of the proband, MLH1 and PMS2 expression was completely lost as a consequence of a pathogenic somatic point mutation (MLH1 c.199G>A, p.Gly67Arg) that also abrogated local methylation by destroying a CpG site. 25742745

2015

dbSNP: rs779512948
rs779512948
0.010 GeneticVariation BEFREE In the colon tumor of the proband, MLH1 and PMS2 expression was completely lost as a consequence of a pathogenic somatic point mutation (MLH1 c.199G>A, p.Gly67Arg) that also abrogated local methylation by destroying a CpG site. 25742745

2015

dbSNP: rs864622553
rs864622553
0.010 GeneticVariation BEFREE In the colon tumor of the proband, MLH1 and PMS2 expression was completely lost as a consequence of a pathogenic somatic point mutation (MLH1 c.199G>A, p.Gly67Arg) that also abrogated local methylation by destroying a CpG site. 25742745

2015

dbSNP: rs17280262
rs17280262
0.700 GeneticVariation GWASCAT A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. 25866641

2015