Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The EGFR mutation status, especially L858R mutation might be correlated with the clinico-pathological features related to good response to gefitinib, such as gender, smoking history, and pathological subtypes of Japanese lung cancers. 16890322 2006
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The identification of activating mutations in the epidermal growth factor receptor (EGFR) gene (deletions in exon 19 [Del19] and point mutation L858R in exon 21) has been the first important step toward molecularly guided precision therapy in lung cancer. 31564835 2019
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The loop-hybrid mobility shift assay (LH-MSA) was previously developed for the rapid detection of the EGFR mutation L858R for predicting clinical responses to gefitinib in lung cancer. 21741959 2011
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The most frequent epidermal growth factor receptor (EGFR) mutations of lung cancer include exon 19 in deletion and the exon 21 L858R mutation. 29290255 2018
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The posterior fossa, the anatomic "watershed areas," and the gray-white matter junction were confirmed to be more commonly affected by lung cancer brain metastases, and brain metastases with epidermal growth factor receptor (EGFR) L858R mutation occurred more often in the caudate, cerebellum, and temporal lobe than those with exon 19 deletion of EGFR. 26519739 2016
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE This CLN-Ohi-MB biochip could quantify single-point mutations in KRAS mRNA (G12C, G12D, G12V) in pancreatic cancer cell-derived EVs and single-point mutations in EGFR mRNA (L858R and T790M) in lung cancer cell-derived EVs with high specificity, not achievable by conventional molecular probes. 30145409 2018
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE To further access a physiological role of MALT1-dependent NF-κB activation in EGFR-driven tumor progression, we generated triple-transgenic mouse model (tetO-EGFR(L858R); CCSP-rtTA; Malt1(-/-)), in which mutant EGFR-driven lung cancer was developed in the absence of MALT1 expression. 25982276 2016
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Twenty resected primary lung cancers known to harbor EGFR L858R were analyzed. 30268468 2018
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Two weeks after induction with doxycycline, mice that express the EGFR(L858R) allele show diffuse lung cancer highly reminiscent of human bronchioloalveolar carcinoma and later develop interspersed multifocal adenocarcinomas. 16705038 2006
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Unusual synchronous double primary treatment-naïve lung adenocarcinoma harboring T790M and L858R mutations in early-stage lung cancer. 31426797 2019
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Using the LightCycler PCR assay, the EGFR L858R mutation status might correlate with gender, pathologic subtypes, and gefitinib sensitivity of lung cancers. 15837743 2005
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We aim to develop a digital PCR-based method for the quantitative detection of the two common epidermal growth factor receptor (EGFR) mutations (in-frame deletion at exon 19 and L858R at exon 21) in the plasma and tumor tissues of patients suffering from non-small cell lung cancers. 19276259 2009
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 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
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
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