Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1463038513
rs1463038513
APC
0.020 GeneticVariation BEFREE We also compared the distribution and frequency of APC mutations from colon tumors that were positive and negative for the I1307K mutation. 9869603

1999

dbSNP: rs1801155
rs1801155
APC
0.020 GeneticVariation BEFREE We also compared the distribution and frequency of APC mutations from colon tumors that were positive and negative for the I1307K mutation. 9869603

1999

dbSNP: rs2273535
rs2273535
0.020 GeneticVariation BEFREE We identified a common genetic variant in STK15 (resulting in the amino acid substitution F31I) that is preferentially amplified and associated with the degree of aneuploidy in human colon tumors. 12881723

2003

dbSNP: rs113488022
rs113488022
0.770 GeneticVariation BEFREE Here, we examined the effect of colon tumor-associated B-Raf mutations within the kinase activation segment, including V599E, on extracellular signal-regulated kinase (Erk) and nuclear factor kappaB (NFkappaB) signaling, and on the transformation of NIH3T3 fibroblasts. 14678966

2003

dbSNP: rs121913377
rs121913377
0.770 GeneticVariation BEFREE Here, we examined the effect of colon tumor-associated B-Raf mutations within the kinase activation segment, including V599E, on extracellular signal-regulated kinase (Erk) and nuclear factor kappaB (NFkappaB) signaling, and on the transformation of NIH3T3 fibroblasts. 14678966

2003

dbSNP: rs1463038513
rs1463038513
APC
0.020 GeneticVariation BEFREE From this descriptive study, it seems that the short-term risk for colonic polyps in I1307K APC mutation is low, primarily affecting patients with previously diagnosed colon tumors. 15733272

2005

dbSNP: rs1801155
rs1801155
APC
0.020 GeneticVariation BEFREE From this descriptive study, it seems that the short-term risk for colonic polyps in I1307K APC mutation is low, primarily affecting patients with previously diagnosed colon tumors. 15733272

2005

dbSNP: rs113488022
rs113488022
0.770 GeneticVariation BEFREE Recently, it was shown that the oncogenic activation of BRAF, a member of the RAS/RAF family of kinases, by the V600E mutation is characteristic for sporadic colon tumors with microsatellite instability. 15782118

2005

dbSNP: rs121913377
rs121913377
0.770 GeneticVariation BEFREE Recently, it was shown that the oncogenic activation of BRAF, a member of the RAS/RAF family of kinases, by the V600E mutation is characteristic for sporadic colon tumors with microsatellite instability. 15782118

2005

dbSNP: rs2273535
rs2273535
0.020 GeneticVariation BEFREE A genetic variant in STK15 T+91A (resulting in the amino acid substitution F31I) is associated with increased aneuploidy in colon tumors and cell transformation in vitro. 15802297

2005

dbSNP: rs1217691063
rs1217691063
0.010 GeneticVariation BEFREE We investigated 2 polymorphisms in the MTHFR gene (C677T and A1298C) and their associations with colon tumor characteristics, including acquired mutations in Ki-ras and p53 genes and microsatellite instability (MSI). 16177213

2005

dbSNP: rs397507444
rs397507444
0.010 GeneticVariation BEFREE We investigated 2 polymorphisms in the MTHFR gene (C677T and A1298C) and their associations with colon tumor characteristics, including acquired mutations in Ki-ras and p53 genes and microsatellite instability (MSI). 16177213

2005

dbSNP: rs879253942
rs879253942
0.010 GeneticVariation BEFREE We investigated 2 polymorphisms in the MTHFR gene (C677T and A1298C) and their associations with colon tumor characteristics, including acquired mutations in Ki-ras and p53 genes and microsatellite instability (MSI). 16177213

2005

dbSNP: rs1045642
rs1045642
0.010 GeneticVariation BEFREE The present study suggests that MDR1 2677G>T and 3435C>T polymorphism is not a risk factor for sporadic colon cancer among Bulgarians and that somatic mutation at these sites is not involved in the genesis of colon tumors. 17674045

2008

dbSNP: rs2032582
rs2032582
0.010 GeneticVariation BEFREE The present study suggests that MDR1 2677G>T and 3435C>T polymorphism is not a risk factor for sporadic colon cancer among Bulgarians and that somatic mutation at these sites is not involved in the genesis of colon tumors. 17674045

2008

dbSNP: rs12953717
rs12953717
0.010 GeneticVariation BEFREE At 18q21, associations were observed in distal colon tumors but not in proximal or rectal cancers: rs4939827 (P(trend) = 0.007; per allele OR, 0.77; 95% CI, 0.64-0.93; case-case p(diff) = 0.03) and rs12953717 (P(trend) = 0.01; per allele OR, 1.27; 95% CI, 1.06-1.52). 19155440

2009

dbSNP: rs4939827
rs4939827
0.010 GeneticVariation BEFREE At 18q21, associations were observed in distal colon tumors but not in proximal or rectal cancers: rs4939827 (P(trend) = 0.007; per allele OR, 0.77; 95% CI, 0.64-0.93; case-case p(diff) = 0.03) and rs12953717 (P(trend) = 0.01; per allele OR, 1.27; 95% CI, 1.06-1.52). 19155440

2009

dbSNP: rs412396
rs412396
0.010 GeneticVariation BEFREE FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. 20622004

2010

dbSNP: rs4725431
rs4725431
0.010 GeneticVariation BEFREE FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. 20622004

2010

dbSNP: rs6964824
rs6964824
0.010 GeneticVariation BEFREE FRAP1 was associated with microsatellite instability (MSI)+ colon tumors; PRKAA1, CpG island methylator phenotype (CIMP)+ and MSI+ colon tumors; PRKAG2 and KRAS2 colon tumors; TSC1 and CIMP+ and MSI+ colon tumors; TSC2 with MSI+ colon tumors; PIK3CA with KRAS2-mutated rectal tumors; PRKAG2 (rs6964824) with KRAS2- and TP53-mutated rectal tumors and with PRKAG2 (rs412396 and rs4725431) with CIMP+ rectal tumors. 20622004

2010

dbSNP: rs1961177
rs1961177
0.010 GeneticVariation BEFREE CT/TT genotypes of rs1961177 were significantly associated with an increased likelihood of a MSI+ colon tumor (OR 1.77 95% CI 1.26-2.37). 21479914

2011

dbSNP: rs861539
rs861539
0.010 GeneticVariation BEFREE Higher frequency of Met allele of XRCC3 Thr241Met was detected in patients treated with neoadjuvant chemoradiotherapy (p = 0.024, OR: 5.25; 95% CI: 1.23-23.39) and with proximal colon tumors (p = 0.04, OR: 2; 95% CI: 1.18-3.34). 21561390

2011

dbSNP: rs113488022
rs113488022
T 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: rs113488022
rs113488022
0.770 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: rs121913377
rs121913377
0.770 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