rs909797662, EGFR

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE Furthermore, we observe an in vivo reduction in tumor size of gallbladder xenografts in response to Afatinib is paralleled by a reduction in the amounts of phospho-ERK, in tumors harboring KRAS (G13D) mutation but not in KRAS (G12V) mutation, supporting an essential role of the ErbB pathway. 30304546 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE An activating mutation in the KIT proto-oncogene receptor tyrosine kinase (KIT) (p.D816G) was identified by SNaPshot sequencing in a tumor sample from a patient with ROS1-positive NSCLC identified by fluorescence in situ hybridization whose disease progressed after initial response to crizotinib. 27068398 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE We conducted a systematic review and meta-analysis of randomized controlled trials (RCTs) to evaluate whether the efficacy of anti-EGFR mAbs for mCRC differs between tumours harbouring a KRAS G13D mutation (KRAS G13D) and KRAS mutations other than G13D (other KRAS MT). 26812186 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE This unique trial will yield prospective information on the efficacy of cetuximab and whether this is further enhanced with chemotherapy in two distinct populations of patients with metastatic colorectal cancer: the "quadruple wild type", which may 'superselect' for tumours sensitive to EGFR-inhibition, and the rare KRAS G13D mutated tumours, which are also postulated to be sensitive to the drug. 27246726 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE Ongoing controversies such as whether patients with KRAS G13D- (or BRAF V600-) mutated tumours can still respond to EGFR-targeted mAbs and the potential impact of inter- and intra-tumour heterogeneity on tumour sampling show that the usefulness of KRAS as a biomarker has not yet been exhausted, and that other downstream biomarkers should be considered. 23375249 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE However, a recent report suggested that the use of cetuximab was associated with survival benefit among patients with p.G13D-mutated tumors. 22043994 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE Patients with KRAS wild-type tumors have a longer progression-free survival (7.30 months [95% CI, 4.48-10.12 months]; HR 0.46 [95% CI, 0.23-0.91]; P = .025) and overall survival (19.0 months [95% CI, 10.2-27.8 months]; HR 0.32 [95% CI, 0.15-0.69]; P = .004) than patients with p.G13D-mutated tumors. 22537608 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE In this analysis, use of cetuximab was associated with longer overall and progression-free survival among patients with chemotherapy-refractory colorectal cancer with p.G13D-mutated tumors than with other KRAS-mutated tumors. 20978259 2010
Secondary malignant neoplasm of colon and/or rectum
0.050 GeneticVariation BEFREE ICECREAM is a randomised, phase II, open-label, controlled trial comparing the efficacy of cetuximab alone or with irinotecan in patients with "quadruple wild type" or G13D-mutated metastatic colorectal cancer, whose disease has progressed on, or who are intolerant of oxaliplatin- and fluoropyrimidine-based chemotherapy. 27246726 2016
Secondary malignant neoplasm of colon and/or rectum
0.050 GeneticVariation BEFREE This meta-analysis demonstrates no significant difference between KRAS G13D and other KRAS MT tumours in terms of treatment benefit from anti-EGFR mAbs for mCRC. 26812186 2016
Secondary malignant neoplasm of colon and/or rectum
0.050 GeneticVariation BEFREE In patients with G13D-mutated chemotherapy-refractory mCRC, there was no statistically significant improvement in disease control at 6 months with either cetuximab monotherapy or cetuximab plus irinotecan. 27114605 2016
Secondary malignant neoplasm of colon and/or rectum
0.050 GeneticVariation BEFREE Influence of KRAS p.G13D mutation in patients with metastatic colorectal cancer treated with cetuximab. 22537608 2012
Secondary malignant neoplasm of colon and/or rectum
0.050 GeneticVariation BEFREE Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic colorectal cancer treated with cetuximab. 20978259 2010
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.040 GeneticVariation BEFREE These results reveal that KRAS G13D is responsive to neurofibromin-stimulated hydrolysis and suggest that a subset of <i>KRAS</i> G13-mutated colorectal cancers that are neurofibromin-competent may respond to EGFR therapies. 31611389 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.040 GeneticVariation BEFREE However, among the various <i>KRAS</i> mutations, that which encodes the G13D mutant protein (KRAS<sup>G13D</sup>) behaves differently; for unknown reasons, KRAS<sup>G13D</sup> CRC patients benefit from the EGFR-blocking antibody cetuximab. 31551296 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.040 GeneticVariation BEFREE Recruitment, particularly of patients with the rare G13D mutation, will demonstrate the ability for international collaboration to run prospective trials in small colorectal cancer molecular subgroups. 27246726 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.040 GeneticVariation BEFREE To accomplish this, we first carried out an in silico analysis of RNA-seq databases and found that the distribution of alternative splicing isoforms of genes RPL13, HSP90B1, ENO1, EPDR1 and ZNF518B was altered in human CRC cell lines carrying the G13D KRAS mutation when compared to cell lines carrying wild-type KRAS. 27805251 2016
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
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
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
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
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
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
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
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
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
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
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
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
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE Expression of the mutant KIT(D816G) receptor in ROS1-positive NSCLC cell lines led to constitutively activated KIT as measured by phosphorylation of the KIT receptor. 27068398 2016
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE Recruitment, particularly of patients with the rare G13D mutation, will demonstrate the ability for international collaboration to run prospective trials in small colorectal cancer molecular subgroups. 27246726 2016