Gene: EGFR ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517132
rs397517132
EGFR
0.060 GeneticVariation BEFREE In conclusion, our findings suggest that targeting ErbB-3 receptors could represent an effective therapeutic approach in BRAF-V600E mutant colon cancer. 26160848

2015
dbSNP: rs397517132
rs397517132
EGFR
0.060 GeneticVariation BEFREE Sorafenib and cetuximab therapy led to a mixed radiographic response with some areas showing dramatic improvement and other areas showing stable disease over a 7-month period which is a notably long period of progression-free survival for V600E BRAF mutated colon cancer. 23792568

2013
dbSNP: rs397517132
rs397517132
EGFR
0.060 GeneticVariation BEFREE The clinical studies in the manuscript by Al-Marrawi et al. describe the rational combination of signaling inhibitors in a colon cancer patient whose tumor cells express a mutant active B-RAF V600E protein that signals into the MEK1/2-ERK1/2 pathway downstream of K-RAS; this is a particularly aggressive form of colon cancer for which few rational therapeutic interventions have been available until recent times. 24025253

2013
dbSNP: rs397517132
rs397517132
EGFR
0.060 GeneticVariation BEFREE Female patients and older group harbored a higher KRAS mutation (P = 0.018 and P = 0.031, respectively); BRAF (V600E) mutation showed a higher frequency in colon cancer and poor differentiation tumors (P = 0.020 and P = 0.030, respectively); proximal tumors appeared a higher PIK3CA mutation (P<0.001) and distant metastatic tumors shared a higher NRAS mutation (P = 0.010). 24339949

2013
dbSNP: rs397517132
rs397517132
EGFR
0.060 GeneticVariation BEFREE Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. 22281684

2012
dbSNP: rs397517132
rs397517132
EGFR
0.060 GeneticVariation BEFREE However, this same agent does not generally benefit colon cancer patients who have the BRAF(V600E) mutation. 23074264

2012
dbSNP: rs909797662
rs909797662
EGFR
0.030 GeneticVariation BEFREE We examined the anti-proliferative effect of miR-143#12 and the mechanism in human colon cancer DLD-1 cell (G13D) and other cell types harboring K-Ras mutations. 29498789

2018
dbSNP: rs909797662
rs909797662
EGFR
0.030 GeneticVariation BEFREE Furthermore, EGF‑ETA was just as potent in HCT116 (KRAS G13D) and SW480 (KRAS G12V) colon cancer cell lines harbouring KRAS hyperactivating mutations when compared to KRAS wild‑type HT29 colon cancer cells. 30226622

2018
dbSNP: rs909797662
rs909797662
EGFR
0.030 GeneticVariation BEFREE Here we report a colon cancer case carrying a novel combination of K-RAS mutations involving codon 13 (Gly to Asp) and codon 19 (Leu to Phe), on separate alleles. 25675084

2015
dbSNP: rs754527029
rs754527029
EGFR ; LOC105375284
0.010 GeneticVariation BEFREE Here we report a colon cancer case carrying a novel combination of K-RAS mutations involving codon 13 (Gly to Asp) and codon 19 (Leu to Phe), on separate alleles. 25675084

2015
dbSNP: rs1051753269
rs1051753269
EGFR
0.010 GeneticVariation BEFREE Through biochemical and cellular pharmacologic studies, we have determined that cells harboring the colon cancer-derived G719S and G724S mutants are responsive to cetuximab therapy in vitro and found that the requirement for asymmetric dimerization of these mutant EGFR to promote cellular transformation may explain their greater inhibition by cetuximab than small-molecule kinase inhibitors. 24894453

2014
dbSNP: rs28929495
rs28929495
EGFR
0.010 GeneticVariation BEFREE Through biochemical and cellular pharmacologic studies, we have determined that cells harboring the colon cancer-derived G719S and G724S mutants are responsive to cetuximab therapy in vitro and found that the requirement for asymmetric dimerization of these mutant EGFR to promote cellular transformation may explain their greater inhibition by cetuximab than small-molecule kinase inhibitors. 24894453

2014