rs1057519847, EGFR

N. diseases: 72
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
0.010 GeneticVariation BEFREE Haploinsufficiency of Nkx2-1 enhanced Kras(G12D)-mediated tumor progression, but reduced EGFR(L858R)-mediated progression. 23143308 2012
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.020 GeneticVariation BEFREE We also indicated that Inhibition of CXCR4 with small interfering RNA, neutralizing antibody, or receptor antagonist significantly suppressed the EGFR-L858R-dependent cell invasion. 26338423 2015
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.020 GeneticVariation BEFREE With the subgroup of EGFR L858R mutation, variant genotypes (GT + TT) of <i>eNOS</i> 894 G/T were significantly associated with lymph node invasion. 30026850 2018
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
0.010 GeneticVariation BEFREE Immunohistochemical Localization of Wild-type EGFR, E746-A750 Frame Deletion in Exon 19, and L858R Point Mutation in Exon 21 in Triple-negative Breast Cancer. 25789532 2015
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
0.010 GeneticVariation BEFREE Immunohistochemical Localization of Wild-type EGFR, E746-A750 Frame Deletion in Exon 19, and L858R Point Mutation in Exon 21 in Triple-negative Breast Cancer. 25789532 2015
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.010 GeneticVariation BEFREE We detected the epidermal growth factor receptor L858R, MSH2 R929* and telomerase reverse transcriptase amplification in the lung cancer specimen; CDH1 c.1320+1G>T mutation in the gastric cancer (GC) specimen; and MLH1 c.1896+5G>A germline mutation in the lung and GC specimens by 450 cancer-related gene mutations detection using next-generation sequencing technology. 31207149 2019
Stage IA Lung Adenocarcinoma AJCC v7
0.010 GeneticVariation BEFREE The case initially had an early-stage LADC with an L858R epidermal growth factor receptor (EGFR) mutation. 28272214 2017
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE Only one of the patients with an EGFR mutation in the primary HNSCC carried the same mutation (L858R) in the lymph node metastasis. 21953075 2012
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
0.010 GeneticVariation BEFREE A subsequent advanced SCC bearing EGFR L858R/T790M mutations occurred 3 years after surgery. 28272214 2017
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.040 GeneticVariation BEFREE Some of these EGFR-mutated PDXs do not respond to erlotinib: LU1868 containing L858R/T790M mutations, and LU0858 having L858R mutation as well as c-MET gene amplification, both squamous cell carcinoma (SCC). 22948846 2013
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.040 GeneticVariation BEFREE Thirty-three of 249 patients with SQC (13.3%) had EGFR mutations, including exon 19 deletion (19 of 33 patients, 58%), L858R point mutation in exon 21 (12 of 33, 36%), and G719S point mutation in exon 18 (2 of 33, 6%). 23242440 2013
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.040 GeneticVariation BEFREE Twenty-six patients were enrolled, all of whom were diagnosed with adenocarcinoma with EGFR mutations (19del: 16, L858R: 10) except one (squamous cell carcinoma with 19del). 24369725 2013
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.040 GeneticVariation BEFREE EGFR mutations (ex19del and L858R) were detected in 1759/8716 (20.2 %) adenocarcinomas, 28/669 (4.2 %) squamous cell carcinomas (SCC) and 8/119 (6.7 %) large cell carcinomas. 27259329 2016
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.030 GeneticVariation BEFREE In this case, both the SCLC and Ad components shared the same mutation in exon 21 (L858R). 17784875 2007
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.030 GeneticVariation BEFREE Epidermal growth factor receptor mutation analysis revealed that the exon 21 L858R activating mutation was present in both the original lung adenocarcinoma and the metastatic SCLC. 20837450 2010
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.030 GeneticVariation BEFREE Seven adenocarcinoma components were EGFR mutated: five exon 19 deletions and two mutations in exon 21 (L833_V834delinsFL and L858R).Four SCLC components were EGFR mutated. 24457237 2013
Signs and Symptoms, Respiratory
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
0.010 GeneticVariation BEFREE This case represents the first evidence that 1) bevacizumab combined with osimertinib can significantly relieve tumor growth and respiratory symptoms in non-small-cell lung cancer patients with osimertinib resistance and 2) the clinical use of osimertinib, bevacizumab, and brigatinib is effective as combination therapy for pulmonary adenocarcinoma in the presence of triple EGFR mutations of L858R, T790M, and <i>cis</i>-C797S. 30233215 2018
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.010 GeneticVariation BEFREE Furthermore, retrospective analysis of 121 patients with lung adenocarcinoma to examine associations between serum SFTPD levels and clinical outcome indicated that in TKI-treated patients with lung cancer harboring EGFR mutations, including Ex19del or L858R, high serum SFTPD levels correlated with a lower number of distant metastases and prolonged overall survival and progression-free survival. 28745320 2017
Secondary malignant neoplasm of lymph node
0.010 GeneticVariation BEFREE Only one of the patients with an EGFR mutation in the primary HNSCC carried the same mutation (L858R) in the lymph node metastasis. 21953075 2012
Secondary malignant neoplasm of lung
0.020 GeneticVariation BEFREE There was a significant difference in newly development of lung metastasis between patients with exon 19 deletion and those with L858R mutation (41.4% vs. 6.3%, p=0.02).PPS was 8.9 months (95% CI, 7.4-10.4). 24309368 2014
Secondary malignant neoplasm of lung
0.020 GeneticVariation BEFREE Oncogenic L858R mutation of human epidermal growth factor receptor (EGFR) confers constitutive activation to the kinase and is frequently observed in the pathological process of metastatic lung cancer. 27643705 2016
Secondary malignant neoplasm of liver
0.010 GeneticVariation BEFREE However, patients with EGFR 19del and LM showed marginally significantly shorter OS (P = .0531) and patients with EGFR L858R and LM had OS similar to that of patients without LM (P = .1883). 28549835 2017
Secondary malignant neoplasm of bone
0.020 GeneticVariation BEFREE She was being treated with gefitinib for lung adenocarcinoma positive for the epidermal growth factor receptor (EGFR) mutation L858R, and had multiple bone metastases. 26045851 2015
Secondary malignant neoplasm of bone
0.020 GeneticVariation BEFREE No significant difference on PFS and OS was observed between exon 19 deletion and L858R mutation group for patients with bone metastasis. 28367239 2017
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.010 GeneticVariation BEFREE We identified a somatic EGFR p.L858R mutation in 1 SK. 23739246 2014