|
rs113488022
|
|
|
0.770 |
GeneticVariation |
BEFREE |
A CIMP(+)/BRAF(V600E)/MLH1(-) phenotype was found in 3/4 right colon tumors.
|
24503755 |
2014 |
|
rs121913377
|
|
|
0.770 |
GeneticVariation |
BEFREE |
A CIMP(+)/BRAF(V600E)/MLH1(-) phenotype was found in 3/4 right colon tumors.
|
24503755 |
2014 |
|
rs397517132
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A CIMP(+)/BRAF(V600E)/MLH1(-) phenotype was found in 3/4 right colon tumors.
|
24503755 |
2014 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs1463038513
|
|
|
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 |
|
rs1801155
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |