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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs121913529
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To address this issue, we generated genetically engineered mice with colon tumors expressing an oncogenic Kras(G12D) allele in the context of the Adenomatous polyposis coli (Apc) deficiency to compare them to tumors harboring Apc deficiency alone.
|
26361962 |
2016 |
rs112431538
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes.
|
28730258 |
2017 |
rs121913331
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes.
|
28730258 |
2017 |
rs1219568637
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes.
|
28730258 |
2017 |
rs1288422703
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes.
|
28730258 |
2017 |
rs140516819
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes.
|
28730258 |
2017 |