rs1057519847, EGFR

N. diseases: 72
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE With clinical CTC samples, we then show that the isolated single CTCs are representative of dominant EGFR mutations such as T790M and L858R found in the primary tumor. 26924553 2016
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE While no significant difference in OS was observed between EGFR exon 19 deletion and L858R mutation, EGFR exon 19 deletion was predictive of longer PFS following EGFR TKI treatment in patients with advanced NSCLC. 21725039 2011
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We were able to identify EGFR mutations in NSCLC effusion and CSF with a sensitivity of 100% (5/5) using the anti-delE746-A750 antibody and 100% (8/8) using the anti-L858R antibody. 21444121 2011
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We were able to identify EGFR mutations in NSCLC tumor samples immunohistochemically with a sensitivity of 79% using the anti-delE746-A750 antibody and 83% using the anti-L858R antibody. 20423982 2010
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We used this method in a survey of 73 non-small cell lung cancer (NSCLC) samples, detecting 14 mutant samples of E746_A750del and 12 mutant samples of L858R. 21439672 2011
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We used four NSCLC cell lines-A549 (wild-type EGFR), H1650 (mutant EGFR; del E746_A750), H1975 (mutant EGFR; L858R, T790M) and H3255 (mutant EGFR; L858R)-and one epidermoid carcinoma cell line, A431 (wild-type EGFR). 24583857 2014
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We used ddPCR to assess the utility of measuring plasma concentrations of common epidermal growth factor receptor (EGFR) mutations (L858R, exon 19 deletion, and T790M) in 57 non-small cell lung cancer (NSCLC) patients treated with EGFR tyrosine kinase inhibitors (EGFR-TKIs). 28061461 2017
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We treated a 38-year-old patient with NSCLC who carried the EGFR L858R mutation. 30127621 2018
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE We tested 2,142 lung adenocarcinoma specimens for the presence of EGFR exon 19 deletions and L858R. 21482987 2011
Malignant neoplasm of penis
CUI: C0153601
Disease: Malignant neoplasm of penis
0.010 GeneticVariation BEFREE We reviewed formalin-fixed, paraffin-embedded blocks of PC at the Pathology Department of the National Cancer Institute since 2000 through 2012 to evaluate activating mutations in the tyrosine kinase domain of EGFR: EGFR E746 - A750 specific deletion in exon 19 and EGFR L858R specific point mutation in exon 21. 23517177 2013
Penis carcinoma
CUI: C0853105
Disease: Penis carcinoma
0.010 GeneticVariation BEFREE We reviewed formalin-fixed, paraffin-embedded blocks of PC at the Pathology Department of the National Cancer Institute since 2000 through 2012 to evaluate activating mutations in the tyrosine kinase domain of EGFR: EGFR E746 - A750 specific deletion in exon 19 and EGFR L858R specific point mutation in exon 21. 23517177 2013
Adult Penile Carcinoma
CUI: C3900097
Disease: Adult Penile Carcinoma
0.010 GeneticVariation BEFREE We reviewed formalin-fixed, paraffin-embedded blocks of PC at the Pathology Department of the National Cancer Institute since 2000 through 2012 to evaluate activating mutations in the tyrosine kinase domain of EGFR: EGFR E746 - A750 specific deletion in exon 19 and EGFR L858R specific point mutation in exon 21. 23517177 2013
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We retrospectively evaluated the clinical effects of second-line platinum combination chemotherapy after first-line gefitinib treatment in NSCLC patients harboring sensitive EGFR mutations (exon 19 deletion or exon 21 L858R mutation) at five institutions. 25990507 2015
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We retrospectively evaluated the clinical effects and safety profiles of second-line cytotoxic drug chemotherapy after first-line EGFR-TKI treatment in elderly patients with NSCLC harboring sensitive EGFR mutations (exon 19 deletion/exon 21 L858R mutation). 29737372 2018
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We retrospectively analyzed a cohort of 100 patients with stage IIIB/IV NSCLC screened for two major EGFR mutations (exon 19 deletions and L858R mutation). 19777258 2010
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We report three cases that were definitively diagnosed as LM from NSCLC with a mutation of epidermal growth factor receptor (<i>EGFR</i>) L858R. 31571928 2019
Metastatic Malignant Neoplasm to the Leptomeninges
0.030 GeneticVariation BEFREE We report three cases that were definitively diagnosed as LM from NSCLC with a mutation of epidermal growth factor receptor (<i>EGFR</i>) L858R. 31571928 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE We report here a case of pulmonary adenocarcinoma with concomitant EGFR mutation in exon 21 (L858R) and ALK rearrangement in naive and relapsed tumors. 25312989 2014
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.100 GeneticVariation BEFREE We report here a case of pulmonary adenocarcinoma with concomitant EGFR mutation in exon 21 (L858R) and ALK rearrangement in naive and relapsed tumors. 25312989 2014
Adenocarcinoma of lung, stage IV
CUI: C0854988
Disease: Adenocarcinoma of lung, stage IV
0.040 GeneticVariation BEFREE We report a case of a 38-year-old woman who was diagnosed with stage IV lung adenocarcinoma, harboring an epidermal growth factor receptor (EGFR) L858R mutation on exon 21 and a T790 M mutation on exon 20. 27599705 2017
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE We report a case here that an advanced lung adenocarcinoma with L858R mutation responded well to pemetrexed rechallenge after acquired resistance of erlotinib. 24636847 2014
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We identified all patients with metastatic <i>EGFR</i> exon19del or L858R-mutant lung cancers treated with first/second-generation EGFR tyrosine kinase inhibitors (TKIs) with pretreatment next-generation sequencing data (MSK-IMPACT assay). 30045933 2019
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
0.010 GeneticVariation BEFREE We identified a somatic EGFR p.L858R mutation in 1 SK. 23739246 2014
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We identified a reference range for EGFR L858R and exon 19 deletions in specimens from KRAS-mutant lung cancer, allowing identification of candidate thresholds with high sensitivity and 100% specificity. 24429876 2014