rs397517132, EGFR

N. diseases: 48
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
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
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
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
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
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
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
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
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.060 GeneticVariation BEFREE However, this same agent does not generally benefit colon cancer patients who have the BRAF(V600E) mutation. 23074264 2012
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.060 GeneticVariation BEFREE Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. 22281684 2012