chr7:55259515:T>G Detail (hg19) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,259,515-55,259,515
hg38 chr7:55,191,822-55,191,822 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2573T>G NP_005219.2:p.Leu858Arg
NM_001346897.1:c.2438T>G NP_001333826.1:p.Leu813Arg
Ensemble ENST00000275493.7:c.2573T>G ENST00000275493.7:p.Leu858Arg
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 274
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 131550 OMIM
HGNC 3236 HGNC
Ensembl ENSG00000146648 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6224 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided Non-small cell lung cancer somatic MGS000026
(TMGS000046) 		Manabu Muto Kyoto University
not provided Adenocarcinoma of lung (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided Adenocarcinoma of lung (disorder) unknown MGS000024
(TMGS000083) 		Manabu Muto Kyoto University
not provided Non-small cell lung cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic non-small cell lung cancer+brain metastasis somatic MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
not provided lung cancer somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
not provided malignant neoplasm of rectum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2005-05-19 no assertion criteria provided Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic somatic Detail
drug response 2005-05-19 no assertion criteria provided Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic somatic Detail
drug response 2006-10-28 no assertion criteria provided somatic Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
Pathogenic 2022-06-06 criteria provided, single submitter lung adenocarcinoma somatic Detail
Pathogenic 2015-07-14 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
Pathogenic 2019-05-28 criteria provided, single submitter lung carcinoma unknown Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Gefitinib B Predictive Supports Sensitivity/Response Somatic 3 18509184 Detail
lung non-small cell carcinoma Gefitinib,Erlotinib B Predictive Supports Sensitivity/Response Somatic 3 24736073 Detail
lung non-small cell carcinoma Gefitinib B Predictive Supports Sensitivity/Response Somatic 4 20038723 Detail
lung adenocarcinoma Gefitinib C Predictive Supports Sensitivity/Response Somatic 1 15329413 Detail
lung non-small cell carcinoma Gefitinib D Predictive Supports Sensitivity/Response Somatic 2 24893891 Detail
lung non-small cell carcinoma Lapatinib D Predictive Supports Sensitivity/Response Somatic 18408761 Detail
lung non-small cell carcinoma Dacomitinib D Predictive Supports Sensitivity/Response Somatic 3 18089823 Detail
lung non-small cell carcinoma Neratinib D Predictive Supports Sensitivity/Response Somatic 16818618 Detail
lung non-small cell carcinoma Afatinib D Predictive Supports Sensitivity/Response Somatic 2 18408761 Detail
lung non-small cell carcinoma Canertinib D Predictive Supports Sensitivity/Response Somatic 18408761 Detail
lung non-small cell carcinoma Erlotinib C Predictive Supports Sensitivity/Response Somatic 2 15329413 Detail
lung adenocarcinoma Gefitinib B Predictive Supports Sensitivity/Response Somatic 3 22370314 Detail
lung non-small cell carcinoma Gefitinib,Erlotinib B Predictive Supports Sensitivity/Response Somatic 4 24457318 Detail
lung non-small cell carcinoma Gefitinib D Predictive Supports Sensitivity/Response Somatic 4 15118125 Detail
lung non-small cell carcinoma Erlotinib A Predictive Supports Sensitivity/Response Somatic 5 24868098 Detail
lung non-small cell carcinoma Afatinib A Predictive Supports Sensitivity/Response Somatic 5 23982599 Detail
lung non-small cell carcinoma B Prognostic Supports Better Outcome Somatic 3 24662454 Detail
cancer Multikinase Inhibitor AEE788,Erlotinib,Gefitinib D Predictive Supports Sensitivity/Response Somatic 3 19147750 Detail
cancer Erlotinib D Predictive Supports Sensitivity/Response Somatic 3 17877814 Detail
lung non-small cell carcinoma Erlotinib D Predictive Supports Sensitivity/Response Somatic 18408761 Detail
lung non-small cell carcinoma Erlotinib D Predictive Supports Sensitivity/Response Somatic 21132006 Detail
lung non-small cell carcinoma Erlotinib D Predictive Supports Sensitivity/Response Somatic 24353160 Detail
lung non-small cell carcinoma Erlotinib D Predictive Supports Sensitivity/Response Somatic 27612423 Detail
lung non-small cell carcinoma Crizotinib C Predictive Supports Resistance Somatic 22235099 Detail
lung adenocarcinoma Erlotinib C Predictive Supports Sensitivity/Response Somatic 27032107 Detail
lung adenocarcinoma Erlotinib D Predictive Supports Sensitivity/Response Somatic 27102076 Detail
lung adenocarcinoma Cetuximab D Predictive Supports Sensitivity/Response Somatic 27102076 Detail
lung small cell carcinoma Erlotinib D Predictive Somatic 24893891 Detail
hematologic cancer Cetuximab D Predictive Somatic 24893891 Detail
high grade glioma Erlotinib D Predictive Supports Sensitivity/Response Somatic 17177598 Detail
lung non-small cell carcinoma Dacomitinib B Predictive Supports Sensitivity/Response Somatic 5 26768165 Detail
lung adenocarcinoma Gefitinib B Predictive Does Not Support Reduced Sensitivity Somatic 2 27022112 Detail
lung adenocarcinoma Afatinib B Predictive Supports Sensitivity/Response Somatic 4 23816960 Detail
lung adenocarcinoma Afatinib B Predictive Supports Sensitivity/Response Somatic 3 22452895 Detail
lung non-small cell carcinoma Erlotinib B Predictive Supports Sensitivity/Response Somatic 3 22285168 Detail
lung non-small cell carcinoma Afatinib D Predictive Supports Sensitivity/Response Somatic 2 26515464 Detail
lung adenocarcinoma Afatinib B Predictive Supports Sensitivity/Response Somatic 4 24439929 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.298 Lung Neoplasms Interestingly, acute loss of Erbb3 suppressed further growth of established EGFR... BeFree 25596284 Detail
0.146 Adenocarcinoma of lung (disorder) We have used unbiased phosphoproteomic approaches, based on quantitative mass sp... BeFree 18776048 Detail
0.385 Non-small cell lung carcinoma Somatic TKI-sensitizing EGFR mutations (such as exon 19 deletions and L858R subs... BeFree 24857124 Detail
0.200 Adenocarcinoma of lung (disorder) We have used unbiased phosphoproteomic approaches, based on quantitative mass sp... BeFree 18776048 Detail
0.080 Carcinoma of lung The loop-hybrid mobility shift assay (LH-MSA) was previously developed for the r... BeFree 21741959 Detail
0.008 Xenograft Model Importantly, we observed that the combination of PI3K-mTOR and MEK inhibitors ef... BeFree 19850869 Detail
0.200 Adenocarcinoma of lung (disorder) EGFR L858R mutation is associated with lung adenocarcinoma patients with dominan... BeFree 25582278 Detail
0.277 squamous cell carcinoma Twenty-six patients were enrolled, all of whom were diagnosed with adenocarcinom... BeFree 24369725 Detail
0.160 Malignant neoplasm of lung Recently, frequent mutations in the epidermal growth factor receptor (EGFR) have... BeFree 21531084 Detail
0.080 Carcinoma of lung Recently, frequent mutations in the epidermal growth factor receptor (EGFR) have... BeFree 21531084 Detail
0.360 adenocarcinoma Driver mutations in the EGFR tyrosine kinase domain (mainly deletions in exon 19... BeFree 22594511 Detail
0.004 Metastatic Malignant Neoplasm to the Leptomeninges We have recently identified an EGFR mutation E884K, in combination with L858R, i... BeFree 19015641 Detail
0.360 adenocarcinoma In the ADC/BAC group, KRAS mutations were more frequent in man (P<0.02) and E... BeFree 23357969 Detail
0.385 Non-small cell lung carcinoma These findings further characterize a mechanism by which gefitinib treatment of ... BeFree 15492241 Detail
0.229 Neoplasm Metastasis Eligible participants were adults (> 18 years) with NSCLC and EGFR mutations ... BeFree 22285168 Detail
0.080 Carcinoma of lung We have recently identified an EGFR mutation E884K, in combination with L858R, i... BeFree 19015641 Detail
0.008 Progressive Neoplastic Disease Eight patients received an EGFR TKI: three cases with G719X plus another mutatio... BeFree 23242437 Detail
0.200 Adenocarcinoma of lung (disorder) The present study describes a case of a 60-year-old Japanese man who was histolo... BeFree 22185996 Detail
0.003 Xenograft Model Importantly, we observed that the combination of PI3K-mTOR and MEK inhibitors ef... BeFree 19850869 Detail
0.360 adenocarcinoma Pretreatment evaluation of EGFR mutations in the resected primary adenocarcinoma... BeFree 24852875 Detail
0.005 mucinous adenocarcinoma Here, we show that haploinsufficiency of Nkx2-1 in combination with oncogenic Kr... BeFree 23143308 Detail
0.008 Progressive cGVHD Eight patients received an EGFR TKI: three cases with G719X plus another mutatio... BeFree 23242437 Detail
0.063 Carcinogenesis These results identify a novel link between the p14(ARF) and EGFR pathways and s... BeFree 22450744 Detail
0.200 Adenocarcinoma of lung (disorder) The L858R mutation of EGFR is associated with polymorphisms of genes related to ... BeFree 21300759 Detail
0.027 Bronchioloalveolar Adenocarcinoma Two weeks after induction with doxycycline, mice that express the EGFR(L858R) al... BeFree 16705038 Detail
0.385 Non-small cell lung carcinoma Although most EGFR mutations detected are short deletions in exon 19 or the L858... BeFree 17877814 Detail
0.200 Adenocarcinoma of lung (disorder) Seventy-seven patients of surgically resected lung adenocarcinoma were analysed ... BeFree 20409020 Detail
0.360 adenocarcinoma We report here a case of pulmonary adenocarcinoma with concomitant EGFR mutation... BeFree 25312989 Detail
0.385 Non-small cell lung carcinoma Activating mutations within the epidermal growth factor receptor (EGFR) kinase d... BeFree 25383627 Detail
0.002 Xenograft Model Importantly, we observed that the combination of PI3K-mTOR and MEK inhibitors ef... BeFree 19850869 Detail
0.200 Adenocarcinoma of lung (disorder) Novel EGFR mutation-specific antibodies for lung adenocarcinoma: highly specific... BeFree 24412618 Detail
0.004 Non-small cell lung cancer recurrent Elderly patients aged 75 or older with advanced or recurrent NSCLC and EGFR muta... BeFree 26003540 Detail
0.080 Carcinoma of lung Four novel mutations (E709K, V765G, Ins770G, and G1022S) and one mutation well-k... BeFree 19726454 Detail
0.080 Carcinoma of lung L858R EGFR mutation status correlated with clinico-pathological features of Japa... BeFree 16890322 Detail
0.160 Malignant neoplasm of lung Four novel mutations (E709K, V765G, Ins770G, and G1022S) and one mutation well-k... BeFree 19726454 Detail
0.160 Malignant neoplasm of lung Gefitinib greatly enhanced NK cell cytotoxicity to lung cancer cells with EGFR L... BeFree 23937717 Detail
0.160 Malignant neoplasm of lung L858R EGFR mutation status correlated with clinico-pathological features of Japa... BeFree 16890322 Detail
0.385 Non-small cell lung carcinoma The EGFR exon 19 deletion mutation and the L858R mutation in exon 21 comprise ap... BeFree 24913109 Detail
0.080 Carcinoma of lung Two weeks after induction with doxycycline, mice that express the EGFR(L858R) al... BeFree 16705038 Detail
0.080 Carcinoma of lung Next, we examined the role of RhoB in lung cancer progression in transgenic mice... BeFree 25320360 Detail
0.360 adenocarcinoma We genotyped 3,026 lung adenocarcinomas for the major EGFR (exon 19 deletions an... BeFree 23014527 Detail
0.034 adenocarcinoma We report here a case of pulmonary adenocarcinoma with concomitant EGFR mutation... BeFree 25312989 Detail
0.298 Lung Neoplasms In this study, we demonstrate that p14(ARF) promotes apoptosis in lung tumour ce... BeFree 22450744 Detail
0.206 Lung Neoplasms Pharmacologic inhibition of β-catenin suppressed EGFR-L858R-T790M mutated lung t... BeFree 25164010 Detail
0.080 Carcinoma of lung An in situ LAMP method was used, along with an amplification refractory mutation... BeFree 17685931 Detail
0.360 adenocarcinoma We have used unbiased phosphoproteomic approaches, based on quantitative mass sp... BeFree 18776048 Detail
0.385 Non-small cell lung carcinoma It is indicated for the first-line treatment of patients with metastatic non-sma... BeFree 24844234 Detail
0.385 Non-small cell lung carcinoma Exon19 deletions and exon21 L858R mutations in EGFR were detected in 4 (12%) and... BeFree 18448998 Detail
0.002 Xenograft Model Importantly, we observed that the combination of PI3K-mTOR and MEK inhibitors ef... BeFree 19850869 Detail
0.200 Adenocarcinoma of lung (disorder) Immunohistochemistry with a novel mutation-specific monoclonal antibody as a scr... BeFree 25286755 Detail
0.010 Pleural Effusion, Malignant Patients in stage IV lung adenocarcinoma with MPEs at initial diagnosis have sho... BeFree 23018906 Detail
0.200 Adenocarcinoma of lung (disorder) A simple and rapid method to detect the epidermal growth factor receptor hot spo... BeFree 16931592 Detail
0.010 Pleural Effusion, Malignant Immunocytochemistry using two antibodies binding specifically to the major forms... BeFree 22525557 Detail
0.385 Non-small cell lung carcinoma The mutations consisted of the recurrent missense L858R and in-frame deletion de... BeFree 16857803 Detail
0.129 squamous cell carcinoma Some of these EGFR-mutated PDXs do not respond to erlotinib: LU1868 containing L... BeFree 22948846 Detail
0.160 Malignant neoplasm of lung Next, we examined the role of RhoB in lung cancer progression in transgenic mice... BeFree 25320360 Detail
0.360 adenocarcinoma Two weeks after induction with doxycycline, mice that express the EGFR(L858R) al... BeFree 16705038 Detail
0.360 adenocarcinoma EGFR mutations were detected in 3 adenocarcinomas; 2 tumors had the L858R substi... BeFree 21917678 Detail
0.385 Non-small cell lung carcinoma U.S. Food and Drug Administration approval summary: Erlotinib for the first-line... BeFree 24868098 Detail
<0.001 Adenocarcinoma of lung, stage IV Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung ... BeFree 24835218 Detail
<0.001 seborrheic keratosis We identified a somatic EGFR p.L858R mutation in 1 SK. BeFree 23739246 Detail
0.005 Adenocarcinoma of lung, stage IV Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung ... BeFree 24835218 Detail
0.160 Malignant neoplasm of lung Advanced lung cancers with epidermal growth factor receptor (EGFR) exon 19 delet... BeFree 26496308 Detail
0.360 adenocarcinoma Eighteen out of 20 large cell carcinomas, not otherwise specified, had glandular... BeFree 24221342 Detail
0.160 Malignant neoplasm of lung We aim to develop a digital PCR-based method for the quantitative detection of t... BeFree 19276259 Detail
0.385 Non-small cell lung carcinoma Common EGFR-mutated subgroups (Del19/L858R) in advanced non-small-cell lung canc... BeFree 25629371 Detail
0.160 Malignant neoplasm of lung An in situ LAMP method was used, along with an amplification refractory mutation... BeFree 17685931 Detail
0.129 Lung Neoplasms Interestingly, acute loss of Erbb3 suppressed further growth of established EGFR... BeFree 25596284 Detail
0.034 adenocarcinoma Eighteen out of 20 large cell carcinomas, not otherwise specified, had glandular... BeFree 24221342 Detail
0.005 Adenocarcinoma of lung, stage IV Patients in stage IV lung adenocarcinoma with MPEs at initial diagnosis have sho... BeFree 23018906 Detail
0.385 Non-small cell lung carcinoma The in vivo antitumor efficacy study demonstrated that compound 3x significantly... BeFree 24053674 Detail
0.200 Adenocarcinoma of lung (disorder) Mutant allele frequency predicts the efficacy of EGFR-TKIs in lung adenocarcinom... BeFree 25009007 Detail
0.277 squamous cell carcinoma We used four NSCLC cell lines-A549 (wild-type EGFR), H1650 (mutant EGFR; del E74... BeFree 24583857 Detail
0.160 Malignant neoplasm of lung Genetic analysis suggested that the specific EGFR mutation L858R in exon 21 migh... BeFree 22733594 Detail
0.298 Lung Neoplasms In contrast, Kras DNA vaccine was not effective in the lung tumor in transgenic ... BeFree 25077772 Detail
0.002 Xenograft Model Importantly, we observed that the combination of PI3K-mTOR and MEK inhibitors ef... BeFree 19850869 Detail
0.005 Adenocarcinoma of lung, stage IV One thousand eight hundred and eighty-two patients with stage IV lung adenocarci... BeFree 26096453 Detail
0.385 Non-small cell lung carcinoma Identification of non-small-cell lung cancer with activating EGFR mutations in m... BeFree 21444121 Detail
0.010 Pleural Effusion, Malignant Identification of non-small-cell lung cancer with activating EGFR mutations in m... BeFree 21444121 Detail
0.160 Malignant neoplasm of lung Denaturing capillary electrophoresis for automated detection of L858R mutation i... BeFree 20574956 Detail
0.277 squamous cell carcinoma Some of these EGFR-mutated PDXs do not respond to erlotinib: LU1868 containing L... BeFree 22948846 Detail
0.298 Lung Neoplasms Similarly, deficiency of Puma impeded the regression of EGFR(L858R)-driven mouse... BeFree 23532334 Detail
<0.001 Adenocarcinoma, Tubular Herein, we report a case of 2 synchronous lung adenocarcinomas composed of 2 dis... BeFree 18186961 Detail
0.219 Non-small cell lung carcinoma Exogenous expression of either the L858R point mutant or the DeltaE746-E750 dele... BeFree 17018617 Detail
0.200 Adenocarcinoma of lung (disorder) Immunocytochemistry using two antibodies binding specifically to the major forms... BeFree 22525557 Detail
0.309 adenocarcinoma Eighteen out of 20 large cell carcinomas, not otherwise specified, had glandular... BeFree 24221342 Detail
0.360 adenocarcinoma Twenty-six patients were enrolled, all of whom were diagnosed with adenocarcinom... BeFree 24369725 Detail
0.385 Non-small cell lung carcinoma Epidermal growth factor receptor (EGFR) gene mutations (G719X, exon 19 deletions... BeFree 24353160 Detail
0.160 Malignant neoplasm of lung The loop-hybrid mobility shift assay (LH-MSA) was previously developed for the r... BeFree 21741959 Detail
0.385 Non-small cell lung carcinoma Advanced non-small-cell lung cancer (NSCLC) patients harboring epidermal growth ... BeFree 21233402 Detail
0.002 Xenograft Model Importantly, we observed that the combination of PI3K-mTOR and MEK inhibitors ef... BeFree 19850869 Detail
0.298 Lung Neoplasms Finally, we showed that EGFR(L858R)/Rhob(+/+) mice developed mainly diffuse lung... BeFree 25320360 Detail
0.385 Non-small cell lung carcinoma We retrospectively analyzed a cohort of 100 patients with stage IIIB/IV NSCLC sc... BeFree 19777258 Detail
0.080 Carcinoma of lung Gefitinib greatly enhanced NK cell cytotoxicity to lung cancer cells with EGFR L... BeFree 23937717 Detail
0.063 Carcinogenesis Genetic analysis suggested that the specific EGFR mutation L858R in exon 21 migh... BeFree 22733594 Detail
0.385 Non-small cell lung carcinoma We used four NSCLC cell lines-A549 (wild-type EGFR), H1650 (mutant EGFR; del E74... BeFree 24583857 Detail
0.360 adenocarcinoma In this prospective study, EGFR exon 19 deletion or L858R mutations in adenocarc... BeFree 18509184 Detail
0.004 Metastatic Malignant Neoplasm to the Leptomeninges Erlotinib-refractory stage IV lung adenocarcinoma and end-stage symptomatic lept... BeFree 16407879 Detail
0.080 Carcinoma of lung Advanced lung cancers with epidermal growth factor receptor (EGFR) exon 19 delet... BeFree 26496308 Detail
0.160 Malignant neoplasm of lung We have recently identified an EGFR mutation E884K, in combination with L858R, i... BeFree 19015641 Detail
0.385 Non-small cell lung carcinoma The oncogenicity of the L858R mutant form of the epidermal growth factor recepto... BeFree 23273428 Detail
0.309 adenocarcinoma We have used unbiased phosphoproteomic approaches, based on quantitative mass sp... BeFree 18776048 Detail
0.080 Carcinoma of lung Denaturing capillary electrophoresis for automated detection of L858R mutation i... BeFree 20574956 Detail
0.200 Adenocarcinoma of lung (disorder) A total of 169 cases (78 biopsies and 91 resected specimens) of lung adenocarcin... BeFree 23465272 Detail
0.002 Non-Neoplastic Disorder Full-section immunohistochemical staining detected heterogeneous mutant EGFR pro... BeFree 24251405 Detail
0.360 adenocarcinoma Finally, we showed that EGFR(L858R)/Rhob(+/+) mice developed mainly diffuse lung... BeFree 25320360 Detail
0.360 adenocarcinoma Immunohistochemical expression of mutation-specific antibodies against EGFR exon... BeFree 23757037 Detail
0.360 adenocarcinoma Incidence of EGFR exon 19 deletions and L858R in tumor specimens from men and ci... BeFree 21482987 Detail
0.385 Non-small cell lung carcinoma Patients with exon 19 deletion were associated with longer progression-free surv... BeFree 25222496 Detail
0.013 Metastatic malignant neoplasm to brain However, the efficacy of afatinib, the second-generation irreversible EGFR TKI, ... BeFree 26469914 Detail
Annotation

Annotations

DescrptionSourceLinks
90 NSCLC patients with stage IIIB/IV chemotherapy-resistant tumors were treated with gefitinib, and... CIViC Evidence Detail
There is no statistical difference in progression free survival between lung cancer patients treated... CIViC Evidence Detail
In a phase 3 clinical trial of non-small cell lung cancer (NSCLC) patients, a subset of patients wit... CIViC Evidence Detail
Mutational profiling was performed on EGFR exons 18-24 from a group of 10 retrospectively chosen pat... CIViC Evidence Detail
In an in vitro study using PC9 cells (EGFR exon 19 deletion), inhibition of cell viability was used ... CIViC Evidence Detail
In an in vitro study using NCI-H1666 cells (wildtype EGFR) and NCI-H3255 cells (EGFR-L858R), inhibit... CIViC Evidence Detail
In an in vitro study using NCI-H322 cells (wildtype EGFR) and NCI-H3255 cells (EGFR-L858R), inhibiti... CIViC Evidence Detail
In an in vitro study using NCI-H1781 cells (EGFR wild-type) and NCI-H3255 cells (EGFR L858R), inhibi... CIViC Evidence Detail
In an in vitro study using NCI-H1666 cells (wildtype EGFR) and NCI-H3255 cells (EGFR-L858R), inhibit... CIViC Evidence Detail
In an in vitro study using NCI-H1666 cells (wildtype EGFR) and NCI-H3255 cells (EGFR-L858R), inhibit... CIViC Evidence Detail
In a phase II trial for bronchioloalveolar carcinoma (BAC, or in situ pulmonary adenocarcinoma), EGF... CIViC Evidence Detail
In a phase 3 clinical trial of Korean, never-smoker, lung adenocarcinoma patients, a subset of patie... CIViC Evidence Detail
In NSCLC patients treated with EGFR tyrosine kinase inhibitors, the presence of L858R mutation is pr... CIViC Evidence Detail
Gefinitib has been shown to be effective in treating cell lines with L858R missense mutations. CIViC Evidence Detail
On May 14, 2013, the U.S. Food and Drug Administration approved erlotinib (Tarceva) for the first-li... CIViC Evidence Detail
Afatinib, an irreversible inhibitor of the ErbB family of tyrosine kinases has been approved in the ... CIViC Evidence Detail
Median survival of patients with EGFR L858R mutation is better than those with wild type EGFR. CIViC Evidence Detail
EGFR L858R was expressed in Ba/F3 cells which do not contain endogenous EGFR, and conferred growth f... CIViC Evidence Detail
MCF-7 cells were transduced with YFP tagged EGFR with E746_A750delELREA mutation, or YFP EGFR wildty... CIViC Evidence Detail
In an in vitro study using NCI-H1666 cells (wildtype EGFR) and NCI-H3255 cells (EGFR-L858R), inhibit... CIViC Evidence Detail
In an in vitro study, a MCF-7 cell line expressing EGFR L858R mutation demonstrated sensitivity to e... CIViC Evidence Detail
In an in vitro study, Ba/F3 and NCI-H3255 cell lines expressing EGFR L858R demonstrated increased se... CIViC Evidence Detail
In an in vitro study, CHO and NCI-H3255 cells expressing EGFR L858R mutation were associated with se... CIViC Evidence Detail
In a non-small cell lung cancer patient with an EGFR L858R mutation, EGFR L858R was reported to be r... CIViC Evidence Detail
In a retrospective study of 46 Caucasian, advanced lung adenocarcinoma patients, a patient harboring... CIViC Evidence Detail
In an in vitro study, Ba/F3 cell line expressing EGFR L858R was associated with sensitivity to erlot... CIViC Evidence Detail
In an in vitro study, Ba/F3 cell line expressing EGFR L858R was associated with sensitivity to cetux... CIViC Evidence Detail
In an in vitro study using NCI-H3255 cells (EGFR L858R mutation), inhibition of EGFR phosphorylation... CIViC Evidence Detail
EGFR L858R mutation has been associated with increased sensitivity to first generation EGFR tyrosine... CIViC Evidence Detail
In an in vitro study, a Ba/F3 cell line expressing EGFR L858R demonstrated increased sensitivity to ... CIViC Evidence Detail
The authors pooled patients with exon 19 deletion and L858R EGFR (Exon 21) mutations from both studi... CIViC Evidence Detail
In a Japanese Phase III clinical trial, noninferiority of Gefitinib as compared to Erlotinib was ass... CIViC Evidence Detail
A phase III clinical trial (NCT00949650) found that median progression free survival among patients ... CIViC Evidence Detail
In a phase 2 study of patients with lung adenocarcinoma (stage IIIb with pleural effusion or stage I... CIViC Evidence Detail
A randomized phase 3 trial (NCT00446225) involving 173 NSCLC patients with EGFR mutations (exon 19 d... CIViC Evidence Detail
Cells harboring L858R were sensitive to afatinib. This study performed drug response assays using fi... CIViC Evidence Detail
Afatinib is an irreversible covalent inhibitor of EGFR (second generation). This Phase III clinical ... CIViC Evidence Detail
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) AND Nonsmall cell lung cancer, response to tyrosine kinase... ClinVar Detail
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) AND Adenocarcinoma of lung, response to tyrosine kinase in... ClinVar Detail
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) AND Tyrosine kinase inhibitor response ClinVar Detail
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) AND gefitinib response - Efficacy ClinVar Detail
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) AND Lung adenocarcinoma ClinVar Detail
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) AND Non-small cell lung carcinoma ClinVar Detail
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) AND Lung carcinoma ClinVar Detail
Interestingly, acute loss of Erbb3 suppressed further growth of established EGFR(L858R)-mediated lun... DisGeNET Detail
We have used unbiased phosphoproteomic approaches, based on quantitative mass spectrometry using sta... DisGeNET Detail
Somatic TKI-sensitizing EGFR mutations (such as exon 19 deletions and L858R substitutions) are the m... DisGeNET Detail
We have used unbiased phosphoproteomic approaches, based on quantitative mass spectrometry using sta... DisGeNET Detail
The loop-hybrid mobility shift assay (LH-MSA) was previously developed for the rapid detection of th... DisGeNET Detail
Importantly, we observed that the combination of PI3K-mTOR and MEK inhibitors effectively shrunk tum... DisGeNET Detail
EGFR L858R mutation is associated with lung adenocarcinoma patients with dominant ground-glass opaci... DisGeNET Detail
Twenty-six patients were enrolled, all of whom were diagnosed with adenocarcinoma with EGFR mutation... DisGeNET Detail
Recently, frequent mutations in the epidermal growth factor receptor (EGFR) have been detected in lu... DisGeNET Detail
Recently, frequent mutations in the epidermal growth factor receptor (EGFR) have been detected in lu... DisGeNET Detail
Driver mutations in the EGFR tyrosine kinase domain (mainly deletions in exon 19 and L858R mutation ... DisGeNET Detail
We have recently identified an EGFR mutation E884K, in combination with L858R, in a patient with adv... DisGeNET Detail
In the ADC/BAC group, KRAS mutations were more frequent in man (P&lt;0.02) and EGFR mutations (exon ... DisGeNET Detail
These findings further characterize a mechanism by which gefitinib treatment of NSCLC harboring EGFR... DisGeNET Detail
Eligible participants were adults (&gt; 18 years) with NSCLC and EGFR mutations (exon 19 deletion or... DisGeNET Detail
We have recently identified an EGFR mutation E884K, in combination with L858R, in a patient with adv... DisGeNET Detail
Eight patients received an EGFR TKI: three cases with G719X plus another mutation had partial respon... DisGeNET Detail
The present study describes a case of a 60-year-old Japanese man who was histologically diagnosed wi... DisGeNET Detail
Importantly, we observed that the combination of PI3K-mTOR and MEK inhibitors effectively shrunk tum... DisGeNET Detail
Pretreatment evaluation of EGFR mutations in the resected primary adenocarcinoma specimen showed an ... DisGeNET Detail
Here, we show that haploinsufficiency of Nkx2-1 in combination with oncogenic Kras(G12D), but not wi... DisGeNET Detail
Eight patients received an EGFR TKI: three cases with G719X plus another mutation had partial respon... DisGeNET Detail
These results identify a novel link between the p14(ARF) and EGFR pathways and suggest that EGFR L85... DisGeNET Detail
The L858R mutation of EGFR is associated with polymorphisms of genes related to estrogen biosynthesi... DisGeNET Detail
Two weeks after induction with doxycycline, mice that express the EGFR(L858R) allele show diffuse lu... DisGeNET Detail
Although most EGFR mutations detected are short deletions in exon 19 or the L858R point mutation in ... DisGeNET Detail
Seventy-seven patients of surgically resected lung adenocarcinoma were analysed for the EGFR exon 19... DisGeNET Detail
We report here a case of pulmonary adenocarcinoma with concomitant EGFR mutation in exon 21 (L858R) ... DisGeNET Detail
Activating mutations within the epidermal growth factor receptor (EGFR) kinase domain, commonly L858... DisGeNET Detail
Importantly, we observed that the combination of PI3K-mTOR and MEK inhibitors effectively shrunk tum... DisGeNET Detail
Novel EGFR mutation-specific antibodies for lung adenocarcinoma: highly specific but not sensitive d... DisGeNET Detail
Elderly patients aged 75 or older with advanced or recurrent NSCLC and EGFR mutations (exon 19 delet... DisGeNET Detail
Four novel mutations (E709K, V765G, Ins770G, and G1022S) and one mutation well-known in lung cancer ... DisGeNET Detail
L858R EGFR mutation status correlated with clinico-pathological features of Japanese lung cancer. DisGeNET Detail
Four novel mutations (E709K, V765G, Ins770G, and G1022S) and one mutation well-known in lung cancer ... DisGeNET Detail
Gefitinib greatly enhanced NK cell cytotoxicity to lung cancer cells with EGFR L858R + T790M resista... DisGeNET Detail
L858R EGFR mutation status correlated with clinico-pathological features of Japanese lung cancer. DisGeNET Detail
The EGFR exon 19 deletion mutation and the L858R mutation in exon 21 comprise approximately 90% of t... DisGeNET Detail
Two weeks after induction with doxycycline, mice that express the EGFR(L858R) allele show diffuse lu... DisGeNET Detail
Next, we examined the role of RhoB in lung cancer progression in transgenic mice that express induci... DisGeNET Detail
We genotyped 3,026 lung adenocarcinomas for the major EGFR (exon 19 deletions and L858R) and KRAS (G... DisGeNET Detail
We report here a case of pulmonary adenocarcinoma with concomitant EGFR mutation in exon 21 (L858R) ... DisGeNET Detail
In this study, we demonstrate that p14(ARF) promotes apoptosis in lung tumour cells harbouring the E... DisGeNET Detail
Pharmacologic inhibition of β-catenin suppressed EGFR-L858R-T790M mutated lung tumor growth, and gen... DisGeNET Detail
An in situ LAMP method was used, along with an amplification refractory mutation system (ARMS) to di... DisGeNET Detail
We have used unbiased phosphoproteomic approaches, based on quantitative mass spectrometry using sta... DisGeNET Detail
It is indicated for the first-line treatment of patients with metastatic non-small cell lung cancer ... DisGeNET Detail
Exon19 deletions and exon21 L858R mutations in EGFR were detected in 4 (12%) and 13 (38%) of 34 NSCL... DisGeNET Detail
Importantly, we observed that the combination of PI3K-mTOR and MEK inhibitors effectively shrunk tum... DisGeNET Detail
Immunohistochemistry with a novel mutation-specific monoclonal antibody as a screening tool for the ... DisGeNET Detail
Patients in stage IV lung adenocarcinoma with MPEs at initial diagnosis have shorter overall surviva... DisGeNET Detail
A simple and rapid method to detect the epidermal growth factor receptor hot spot mutation L858R in ... DisGeNET Detail
Immunocytochemistry using two antibodies binding specifically to the major forms of mutant EGFR, L85... DisGeNET Detail
The mutations consisted of the recurrent missense L858R and in-frame deletion delE746-A750, previous... DisGeNET Detail
Some of these EGFR-mutated PDXs do not respond to erlotinib: LU1868 containing L858R/T790M mutations... DisGeNET Detail
Next, we examined the role of RhoB in lung cancer progression in transgenic mice that express induci... DisGeNET Detail
Two weeks after induction with doxycycline, mice that express the EGFR(L858R) allele show diffuse lu... DisGeNET Detail
EGFR mutations were detected in 3 adenocarcinomas; 2 tumors had the L858R substitution and 1 an exon... DisGeNET Detail
U.S. Food and Drug Administration approval summary: Erlotinib for the first-line treatment of metast... DisGeNET Detail
Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harbo... DisGeNET Detail
We identified a somatic EGFR p.L858R mutation in 1 SK. DisGeNET Detail
Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harbo... DisGeNET Detail
Advanced lung cancers with epidermal growth factor receptor (EGFR) exon 19 deletions (Ex19s) and EGF... DisGeNET Detail
Eighteen out of 20 large cell carcinomas, not otherwise specified, had glandular differentiation upo... DisGeNET Detail
We aim to develop a digital PCR-based method for the quantitative detection of the two common epider... DisGeNET Detail
Common EGFR-mutated subgroups (Del19/L858R) in advanced non-small-cell lung cancer: chasing better o... DisGeNET Detail
An in situ LAMP method was used, along with an amplification refractory mutation system (ARMS) to di... DisGeNET Detail
Interestingly, acute loss of Erbb3 suppressed further growth of established EGFR(L858R)-mediated lun... DisGeNET Detail
Eighteen out of 20 large cell carcinomas, not otherwise specified, had glandular differentiation upo... DisGeNET Detail
Patients in stage IV lung adenocarcinoma with MPEs at initial diagnosis have shorter overall surviva... DisGeNET Detail
The in vivo antitumor efficacy study demonstrated that compound 3x significantly inhibited tumor gro... DisGeNET Detail
Mutant allele frequency predicts the efficacy of EGFR-TKIs in lung adenocarcinoma harboring the L858... DisGeNET Detail
We used four NSCLC cell lines-A549 (wild-type EGFR), H1650 (mutant EGFR; del E746_A750), H1975 (muta... DisGeNET Detail
Genetic analysis suggested that the specific EGFR mutation L858R in exon 21 might be the main factor... DisGeNET Detail
In contrast, Kras DNA vaccine was not effective in the lung tumor in transgenic mice, which was indu... DisGeNET Detail
Importantly, we observed that the combination of PI3K-mTOR and MEK inhibitors effectively shrunk tum... DisGeNET Detail
One thousand eight hundred and eighty-two patients with stage IV lung adenocarcinomas were identifie... DisGeNET Detail
Identification of non-small-cell lung cancer with activating EGFR mutations in malignant effusion an... DisGeNET Detail
Identification of non-small-cell lung cancer with activating EGFR mutations in malignant effusion an... DisGeNET Detail
Denaturing capillary electrophoresis for automated detection of L858R mutation in exon 21 of the epi... DisGeNET Detail
Some of these EGFR-mutated PDXs do not respond to erlotinib: LU1868 containing L858R/T790M mutations... DisGeNET Detail
Similarly, deficiency of Puma impeded the regression of EGFR(L858R)-driven mouse lung tumors upon in... DisGeNET Detail
Herein, we report a case of 2 synchronous lung adenocarcinomas composed of 2 distinct pathological s... DisGeNET Detail
Exogenous expression of either the L858R point mutant or the DeltaE746-E750 deletion mutant form of ... DisGeNET Detail
Immunocytochemistry using two antibodies binding specifically to the major forms of mutant EGFR, L85... DisGeNET Detail
Eighteen out of 20 large cell carcinomas, not otherwise specified, had glandular differentiation upo... DisGeNET Detail
Twenty-six patients were enrolled, all of whom were diagnosed with adenocarcinoma with EGFR mutation... DisGeNET Detail
Epidermal growth factor receptor (EGFR) gene mutations (G719X, exon 19 deletions/insertions, L858R, ... DisGeNET Detail
The loop-hybrid mobility shift assay (LH-MSA) was previously developed for the rapid detection of th... DisGeNET Detail
Advanced non-small-cell lung cancer (NSCLC) patients harboring epidermal growth factor receptor (EGF... DisGeNET Detail
Importantly, we observed that the combination of PI3K-mTOR and MEK inhibitors effectively shrunk tum... DisGeNET Detail
Finally, we showed that EGFR(L858R)/Rhob(+/+) mice developed mainly diffuse lung tumors with a lepid... DisGeNET Detail
We retrospectively analyzed a cohort of 100 patients with stage IIIB/IV NSCLC screened for two major... DisGeNET Detail
Gefitinib greatly enhanced NK cell cytotoxicity to lung cancer cells with EGFR L858R + T790M resista... DisGeNET Detail
Genetic analysis suggested that the specific EGFR mutation L858R in exon 21 might be the main factor... DisGeNET Detail
We used four NSCLC cell lines-A549 (wild-type EGFR), H1650 (mutant EGFR; del E746_A750), H1975 (muta... DisGeNET Detail
In this prospective study, EGFR exon 19 deletion or L858R mutations in adenocarcinoma were the best ... DisGeNET Detail
Erlotinib-refractory stage IV lung adenocarcinoma and end-stage symptomatic leptomeningeal metastase... DisGeNET Detail
Advanced lung cancers with epidermal growth factor receptor (EGFR) exon 19 deletions (Ex19s) and EGF... DisGeNET Detail
We have recently identified an EGFR mutation E884K, in combination with L858R, in a patient with adv... DisGeNET Detail
The oncogenicity of the L858R mutant form of the epidermal growth factor receptor (EGFR) in non-smal... DisGeNET Detail
We have used unbiased phosphoproteomic approaches, based on quantitative mass spectrometry using sta... DisGeNET Detail
Denaturing capillary electrophoresis for automated detection of L858R mutation in exon 21 of the epi... DisGeNET Detail
A total of 169 cases (78 biopsies and 91 resected specimens) of lung adenocarcinoma with EGFR mutati... DisGeNET Detail
Full-section immunohistochemical staining detected heterogeneous mutant EGFR proteins expression in ... DisGeNET Detail
Finally, we showed that EGFR(L858R)/Rhob(+/+) mice developed mainly diffuse lung tumors with a lepid... DisGeNET Detail
Immunohistochemical expression of mutation-specific antibodies against EGFR exon 19 deletion E746-A7... DisGeNET Detail
Incidence of EGFR exon 19 deletions and L858R in tumor specimens from men and cigarette smokers with... DisGeNET Detail
Patients with exon 19 deletion were associated with longer progression-free survival compared to tho... DisGeNET Detail
However, the efficacy of afatinib, the second-generation irreversible EGFR TKI, as the first-line tr... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121434568 dbSNP
Genome
hg19
Position
chr7:55,259,515-55,259,515
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
L858R
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/33
Summary (CIViC Variant)
EGFR L858R has long been recognized as a functionally significant mutation in cancer, and is one of the most prevalent single mutations in lung cancer. Best described in non-small cell lung cancer (NSCLC), the mutation seems to confer sensitivity to first and second generation TKI's like gefitinib and neratinib. NSCLC patients with this mutation treated with TKI's show increased overall and progression-free survival, as compared to chemotherapy alone. Third generation TKI's are currently in clinical trials that specifically focus on mutant forms of EGFR, a few of which have shown efficacy in treating patients that failed to respond to earlier generation TKI therapies.
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