Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.770 GeneticVariation BEFREE Of 63 patients with BRAF V600E-mutated mCRC and sufficient clinical data, 27 (42.9%) had right-sided colon tumors, 19 (30.2%) had left-sided colon tumors, and 17 (26.9%) had rectal tumors; 26 (41.3%) had peritoneal metastases, and 50 (79.4%) had distant lymph node metastases. 29037218

2017

dbSNP: rs121913377
rs121913377
0.770 GeneticVariation BEFREE Of 63 patients with BRAF V600E-mutated mCRC and sufficient clinical data, 27 (42.9%) had right-sided colon tumors, 19 (30.2%) had left-sided colon tumors, and 17 (26.9%) had rectal tumors; 26 (41.3%) had peritoneal metastases, and 50 (79.4%) had distant lymph node metastases. 29037218

2017

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: 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: 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 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

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: 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: rs397517132
rs397517132
0.020 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 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: 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: 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: 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: 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: rs112431538
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

dbSNP: rs121913331
rs121913331
APC
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

dbSNP: rs1219568637
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