Gene: EGFR

Alternate names for this Gene: ERBB|ERBB1|HER1|NISBD2|PIG61|mENA

Gene Summary: The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor, thus inducing receptor dimerization and tyrosine autophosphorylation leading to cell proliferation. Mutations in this gene are associated with lung cancer. EGFR is a component of the cytokine storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulting from infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2).

Gene is located in Chromosome: 7

Location in Chromosome : 7p11.2

Description of this Gene: epidermal growth factor receptor

Type of Gene: protein-coding

rs121913229 in EGFR gene and Adenocarcinoma of lung (disorder) PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 15737014 2005 Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 24212795 2011 Glioma Specific Extracellular Missense Mutations in the First Cysteine Rich Region of Epidermal Growth Factor Receptor (EGFR) Initiate Ligand Independent Activation.

PMID 20942962 2010 Clinical implications of novel activating EGFR mutations in malignant peritoneal mesothelioma.

rs7785013 in EGFR gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs17172445 in EGFR gene and Astigmatism PMID 30306274 2018 Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.

rs10488140 in EGFR gene and Bipolar Disorder PMID 18317468 2008 Whole-genome association study of bipolar disorder.

rs1057519828 in EGFR gene and Brain Neoplasms PMID 17177598 2006 Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519888 in EGFR gene and Brain Stem Glioma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057520037 in EGFR gene and Carcinoma of lung PMID 16043828 2005 Mutations in the epidermal growth factor receptor and in KRAS are predictive and prognostic indicators in patients with non-small-cell lung cancer treated with chemotherapy alone and in combination with erlotinib.

rs11979158 in EGFR gene and Central Nervous System Neoplasms PMID 21531791 2011 Chromosome 7p11.2 (EGFR) variation influences glioma risk.

PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs1057519760 in EGFR gene and Colorectal Neoplasms PMID 22270724 2012 Identification of a mutation in the extracellular domain of the Epidermal Growth Factor Receptor conferring cetuximab resistance in colorectal cancer.

rs1057519887 in EGFR gene and Glioblastoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 30152087 2018 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age.

PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs11979158 in EGFR gene and Glioblastoma Multiforme PMID 30152087 2018 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age.

PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs11979158 in EGFR gene and Glioma PMID 21531791 2011 Using these data, we demonstrate two statistically independent associations between glioma and rs11979158 and rs2252586, at 7p11.2 which encompasses the EGFR gene (population-corrected statistics, P(c) = 7.72 × 10(-8) and 2.09 × 10(-8), respectively).

PMID 29743610 2018 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21.

PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs1057519830 in EGFR gene and Head and Neck Neoplasms PMID 23578570 2013 A patient-derived somatic mutation in the epidermal growth factor receptor ligand-binding domain confers increased sensitivity to cetuximab in head and neck cancer.

PMID 24934779 2016 Epidermal Growth Factor Receptor P753S Mutation in Cutaneous Squamous Cell Carcinoma Responsive to Cetuximab-Based Therapy.

PMID 21274259 2010 Screening for EGFR Mutations in Patients with Head and Neck Cancer Treated with Gefitinib on a Compassionate-Use Program: A Hellenic Cooperative Oncology Group Study.

rs1057519847 in EGFR gene and Non-Small Cell Lung Carcinoma PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 22622260 2012 Differential sensitivities to tyrosine kinase inhibitors in NSCLC harboring EGFR mutation and ALK translocation.

PMID 18089823 2007 PF00299804, an irreversible pan-ERBB inhibitor, is effective in lung cancer models with EGFR and ERBB2 mutations that are resistant to gefitinib.

PMID 17545553 2007 The epidermal growth factor receptor D761Y mutation and effect of tyrosine kinase inhibitor.

PMID 23800712 2013 Revisiting clinical trials using EGFR inhibitor-based regimens in patients with advanced non-small cell lung cancer: a retrospective analysis of an MD Anderson Cancer Center phase I population.

PMID 16730855 2006 Double mutation and gene copy number of EGFR in gefitinib refractory non-small-cell lung cancer.

PMID 19147750 2009 Functional analysis of epidermal growth factor receptor (EGFR) mutations and potential implications for EGFR targeted therapy.

PMID 19455431 2010 In silico identification of significant detrimental missense mutations of EGFR and their effect with 4-anilinoquinazoline-based drugs.

PMID 15710947 2005 Predictive and prognostic impact of epidermal growth factor receptor mutation in non-small-cell lung cancer patients treated with gefitinib.

PMID 16115929 2005 Activating mutations in the tyrosine kinase domain of the epidermal growth factor receptor are associated with improved survival in gefitinib-treated chemorefractory lung adenocarcinomas.

PMID 15738541 2005 Mutations of the epidermal growth factor receptor gene predict prolonged survival after gefitinib treatment in patients with non-small-cell lung cancer with postoperative recurrence.

PMID 22753918 2012 Randomized phase II study of dacomitinib (PF-00299804), an irreversible pan-human epidermal growth factor receptor inhibitor, versus erlotinib in patients with advanced non-small-cell lung cancer.

PMID 15329413 2004 "EGF receptor gene mutations are common in lung cancers from ""never smokers"" and are associated with sensitivity of tumors to gefitinib and erlotinib."

PMID 19922469 2010 Epidermal growth factor receptor in relation to tumor development: EGFR gene and cancer.

PMID 23102728 2013 MEK inhibitors reverse resistance in epidermal growth factor receptor mutation lung cancer cells with acquired resistance to gefitinib.

PMID 16011858 2005 Mutations in the tyrosine kinase domain of the EGFR gene associated with gefitinib response in non-small-cell lung cancer.

PMID 21531810 2011 "Effectiveness of tyrosine kinase inhibitors on ""uncommon"" epidermal growth factor receptor mutations of unknown clinical significance in non-small cell lung cancer."

PMID 2302402 1990 Effects of marine oil-enriched diets on guinea pig megakaryocyte and platelet lipids: effects on thromboxane synthesis and platelet function.

PMID 20479403 2010 Neratinib, an irreversible pan-ErbB receptor tyrosine kinase inhibitor: results of a phase II trial in patients with advanced non-small-cell lung cancer.

PMID 15118125 2004 EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy.

PMID 15118073 2004 Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib.

PMID 23242437 2013 Compound EGFR mutations and response to EGFR tyrosine kinase inhibitors.

PMID 23945392 2013 Erlotinib response in an NSCLC patient with a novel compound G719D+L861R mutation in EGFR.

PMID 18458038 2008 First-line gefitinib in patients with advanced non-small-cell lung cancer harboring somatic EGFR mutations.

PMID 23485129 2013 Uncommon epidermal growth factor receptor mutations in non-small cell lung cancer and their mechanisms of EGFR tyrosine kinase inhibitors sensitivity and resistance.

PMID 19536777 2010 Second-line treatments after first-line gefitinib therapy in advanced nonsmall cell lung cancer.

PMID 18199554 2008 Impact of common epidermal growth factor receptor and HER2 variants on receptor activity and inhibition by lapatinib.

PMID 15788655 2005 Mutations in the tyrosine kinase domain of the epidermal growth factor receptor in non-small cell lung cancer.

PMID 19671738 2009 Double EGFR mutants containing rare EGFR mutant types show reduced in vitro response to gefitinib compared with common activating missense mutations.

PMID 21841502 2011 Activity of epidermal growth factor receptor-tyrosine kinase inhibitors in patients with non-small cell lung cancer harboring rare epidermal growth factor receptor mutations.

PMID 18450321 2008 Correlation of EGFR mutations with chromosomal alterations and expression of EGFR, ErbB3 and VEGF in tumor samples of lung adenocarcinoma patients.

PMID 16533793 2006 Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with different tobacco exposure and clinicopathologic features.

PMID 18176089 2007 Prognostic factors for gefitinib-treated postoperative recurrence in non-small cell lung cancer.

rs121913430 in EGFR gene and Prostatic Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs7785013 in EGFR gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs121913446 in EGFR gene and Squamous cell carcinoma of esophagus PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs121913428 in EGFR gene and Squamous cell carcinoma of lung PMID 22753918 2012 Randomized phase II study of dacomitinib (PF-00299804), an irreversible pan-human epidermal growth factor receptor inhibitor, versus erlotinib in patients with advanced non-small-cell lung cancer.

PMID 23102728 2013 MEK inhibitors reverse resistance in epidermal growth factor receptor mutation lung cancer cells with acquired resistance to gefitinib.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 20942962 2010 Clinical implications of novel activating EGFR mutations in malignant peritoneal mesothelioma.

rs1057519887 in EGFR gene and Squamous cell carcinoma of the head and neck PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 21531084 2011 Epidermal growth factor receptor (EGFR) and squamous cell carcinoma of the skin: molecular bases for EGFR-targeted therapy.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 20415598 2010 Investigational EGFR-targeted therapy in head and neck squamous cell carcinoma.

rs1057519794 in EGFR gene and endometrial adenoacanthoma PMID 22885469 2012 Lapatinib and potential prognostic value of EGFR mutations in a Gynecologic Oncology Group phase II trial of persistent or recurrent endometrial cancer.