Varaico: Literature-Extracted Genetic Variants

Gene:EGFR
Variant:p.P596L
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EGFR

NM_005228.5:p.P596L

Associated Papers

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Analytical Validation and Clinical Sensitivity of the Belay Summit™ 2.0 Cerebrospinal Fluid Liquid Biopsy Test-An Expanded Comprehensive Genomic Profiling Platform for Central Nervous System Malignancies.

Khurana S et al.

Cancers, 2026

EGFR Activation and Conformational "Convergence": An Emerging Allosteric Model From Cancer Mutations.

Orellana L

Journal of Molecular Biology, 2025

Spatial genomic heterogeneity in IDH-wildtype glioblastoma uncovered by multiregional analysis.

Miwa K et al.

Qjm : Monthly Journal of the Association of Physicians, 2025

Genetic mechanisms of resistance to targeted KRAS inhibition.

Diaz BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

40799582 (PubMed )
Supplement: media-3.xlsx › Table_S1B

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_2_suppst2.xlsx › Sheet1

Resistance Mutation Profiles Associated with Current Treatments for Epidermal Growth Factor Receptor-Mutated Non-Small-Cell Lung Cancer in the United States: A Systematic Literature Review.

Vadagam P et al.

Current Oncology (toronto, Ont.), 2025

40277748 (PubMed )
Supplement: curroncol-32-00191-s001.zip › curroncol-3409061-supplementary.pdf

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Continuous_TISF_monitoring

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1B_Cases_composite_mutations

Organismal metabolism regulates the expansion of oncogenic PIK3CA mutant clones in normal esophagus.

Herms A et al.

Nature Genetics, 2024

39169259 (PubMed )
Supplement: 41588_2024_1891_MOESM6_ESM.xlsx › Fig_1a

Multi-omics and pharmacological characterization of patient-derived glioma cell lines.

Wu M et al.

Nature Communications, 2024

39112531 (PubMed )
Supplement: 41467_2024_51214_MOESM5_ESM.xlsx › Fig._1B

Phase II Trial of Afatinib in Patients With EGFR-Mutated Solid Tumors Excluding Lung Cancer: Results From NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocol A.

Gettinger SN et al.

Jco Precision Oncology, 2024

Molecular heterogeneity and co-altered genes in MET-amplified ALK-positive lung cancer: Implications for MET targeted therapy.

Dagogo-Jack I et al.

Lung Cancer (amsterdam, Netherlands), 2023

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Efficacy and Tolerability of ALK/MET Combinations in Patients With ALK-Rearranged Lung Cancer With Acquired MET Amplification: A Retrospective Analysis.

Dagogo-Jack I et al.

Jto Clinical and Research Reports, 2023

Comparison between Three Different Techniques for the Detection of EGFR Mutations in Liquid Biopsies of Patients with Advanced Stage Lung Adenocarcinoma.

Casula M et al.

International Journal of Molecular Sciences, 2023

37047382 (PubMed )
Supplement: ijms-24-06410-s001.zip › ijms-2177723-supplementary.pdf

Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.

Park HY et al.

Biomedicines, 2023

36979829 (PubMed )
Supplement: biomedicines-11-00851-s001.zip › biomedicines-2237878-supplementary.pdf

Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.

Cifuentes GA et al.

British Journal of Cancer, 2023

Impact of EGFRA289T/V mutation on relapse pattern in glioblastoma.

Noeuveglise A et al.

Esmo Open, 2023

Structure-Guided Strategies of Targeted Therapies for Patients with EGFR-Mutant Non-Small Cell Lung Cancer.

Du Z et al.

Biomolecules, 2023

36830579 (PubMed )
Supplement: biomolecules-13-00210-s001.zip › biomolecules-2098784-supplementary.xlsx › Table_S8

ERBB family fusions are recurrent and actionable oncogenic targets across cancer types.

Schubert L et al.

Frontiers in Oncology, 2023

37168365 (PubMed )
Supplement: Table_3.xlsx › EGFR_mutations

Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel.

Higa N et al.

Neurologia Medico-chirurgica, 2022

36031351 (PubMed )
Supplement: 1349-8029-62-0391-s005.pdf

L718Q/V mutation in exon 18 of EGFR mediates resistance to osimertinib: clinical features and treatment.

Li M et al.

Discover Oncology, 2022

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Gounder MM et al.

Nature Communications, 2022

35705558 (PubMed )
Supplement: 41467_2022_30496_MOESM2_ESM.xls › variants_table_final_for_supple

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2F

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › gene_aberrations

Preclinical assessment of combination therapy of EGFR tyrosine kinase inhibitors in a highly heterogeneous tumor model.

Ikeuchi H et al.

Oncogene, 2022

35304574 (PubMed )
Supplement: 41388_2022_2263_MOESM5_ESM.xlsx › Supplementary_Table_4

Genomic Analysis of Tumors from Patients with Glioblastoma with Long-Term Response to Afatinib.

Owen S et al.

Oncotargets and Therapy, 2022

Genetic testing and prognosis of sarcomatoid hepatocellular carcinoma patients.

Jia B et al.

Frontiers in Oncology, 2022

36741696 (PubMed )
Supplement: DataSheet_1.zip › Supplemental_Table_S2.xlsx › Sheet1

Multi-Platform Classification of IDH-Wild-Type Glioblastoma Based on ERK/MAPK Pathway: Diagnostic, Prognostic and Therapeutic Implications.

Georgescu MM

Cancers, 2021

34572759 (PubMed )
Supplement: cancers-13-04532-s001.zip › cancers-1328061-supplementary.pdf

Usefulness of Circulating Tumor DNA in Identifying Somatic Mutations and Tracking Tumor Evolution in Patients With Non-small Cell Lung Cancer.

Roosan MR et al.

Chest, 2021

33878340 (PubMed )
Supplement: mmc1.pdf

A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database.

Pappula AL et al.

Cancers, 2021

34503108 (PubMed )
Supplement: cancers-13-04299-s001.zip › Supplemental_Tables_final.xlsx › Table_S11

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Spectrum of driver mutations and clinical impact of circulating tumor DNA analysis in non-small cell lung cancer: Analysis of over 8000 cases.

Mack PC et al.

Cancer, 2020

32365229 (PubMed )
Supplement: CNCR-126-3219-s002.docx

Colorectal adenocarcinoma-derived EGFR mutants are oncogenic and sensitive to EGFR-targeted monoclonal antibodies, cetuximab and panitumumab.

Kim N et al.

International Journal of Cancer, 2020

Spectrum of EGFR aberrations and potential clinical implications: insights from integrative pan-cancer analysis.

Liu H et al.

Cancer Communications (london, England), 2020

32067422 (PubMed )
Supplement: CAC2-40-43-s001.xlsx › Table_S1

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM2_ESM.xlsx › Sheet1

Tumor clonality and resistance mechanisms in EGFR mutation-positive non-small-cell lung cancer: implications for therapeutic sequencing.

Kohsaka S et al.

Future Oncology (london, England), 2019

Clinically Actionable Insights into Initial and Matched Recurrent Glioblastomas to Inform Novel Treatment Approaches.

Ellis HP et al.

Journal of Oncology, 2019

32082376 (PubMed )
Supplement: 4878547.f1.zip › 4878547.f1 › Ellis_et_al_SNVs_041018_Supplementary_Tables.xlsx › TableS7_TCGA_mutatons

Heterogeneous responses and resistant mechanisms to crizotinib in ALK-positive advanced non-small cell lung cancer.

Kang J et al.

Thoracic Cancer, 2018

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 13

Mechanisms of receptor tyrosine kinase activation in cancer.

Du Z et al.

Molecular Cancer, 2018

Mutational signatures and chromosome alteration profiles of squamous cell carcinomas of the vulva.

Han MR et al.

Experimental & Molecular Medicine, 2018

29422544 (PubMed )
Supplement: emm2017265x3.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."