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 discovery of epidermal growth factor receptor tyrosine kinase inhibitor (EGFR TKI) has led to unprecedented clinical response in a subset of lung cancer patients carrying the sensitizing EGFR mutations (L858R or exon 19 deletion). 28774798 2017
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Evidence shows that exon 19 deletions (19del) and exon 21 Leu858Arg point mutation (L858R) of EGFR are different in response to EGFR tyrosine kinase inhibitor (EGFR-TKI) therapy in advanced lung cancers. 29026990 2018
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 Front-line epidermal growth factor receptor tyrosine kinase inhibitor (EGFR TKI) therapy is the standard of care for lung cancer patients with sensitising EGFR mutations (exon 19 deletion or L858R mutation). 29462253 2018
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Specific targeting of point mutations in EGFR L858R-positive lung cancer by CRISPR/Cas9. 29748615 2018
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Diagnosis of EGFR exon21 L858R point mutation as lung cancer biomarker by electrochemical DNA biosensor based on reduced graphene oxide /functionalized ordered mesoporous carbon/Ni-oxytetracycline metallopolymer nanoparticles modified pencil graphite electrode. 29753165 2018
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 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 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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.100 GeneticVariation BEFREE EGFR exon 21 L858R as an acquired resistance mechanism to nivolumab in a lung cancer patient originally driver gene-negative. 30810279 2019
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 In this study, we applied ORNi-PCR to simultaneous detection of the de novo L858R and acquired T790M mutations in the <i>EGFR</i> gene in lung cancer cells. 31426517 2019
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 Electrochemical molecularly bioimprinted siloxane biosensor on the basis of core/shell silver nanoparticles/EGFR exon 21 L858R point mutant gene/siloxane film for ultra-sensing of Gemcitabine as a lung cancer chemotherapy medication. 31550632 2019
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