Varaico: Literature-Extracted Genetic Variants

Gene:EGFR
Variant:p.R521K
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EGFR

NM_005228.5:p.R521K

Associated Papers

Breast Cancer Susceptibility: Meta-Analysis of Cytochrome P450 2C19 (CYP2C19) and Estrogen Receptor-1 (ESR1) Genetic Variants.

Shibi Anilkumar A et al.

Cancer Investigation, 2026

Efficacy of TKIs in non-small cell lung cancer with atypical EGFR p.L747P and p.L747S mutations.

Hu Q et al.

Frontiers in Oncology, 2026

Structural pharmacogenomics of drug-associated SNPs in oral squamous cell carcinoma.

Sunil P et al.

Frontiers in Genetics, 2026

Cellular heterogeneity and therapeutic response profiling of human IDH + glioma stem cell cultures.

Chambwe N et al.

Scientific Reports, 2025

41423517 (PubMed )
Supplement: 41598_2025_33082_MOESM2_ESM.xlsx › GSCvariants

The - 216G/T polymorphism in the EGFR gene: A review focusing on Non-Small lung cancer.

Obradovic J et al.

Molecular Biology Reports, 2025

BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.

Golan H et al.

Bmc Cancer, 2025

41174508 (PubMed )
Supplement: 12885_2025_14595_MOESM2_ESM.xls › high-confidence_variants__2_

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

Exploring the mutational spectrum of key kinase genes PIK3CA, BRAF, EGFR, ALK and ROS1 in oral squamous cell carcinoma.

Nawab F et al.

Bmc Cancer, 2025

Cellular heterogeneity and therapeutic response profiling of human IDH+ glioma stem cell cultures.

Chambwe N et al.

Biorxiv : the Preprint Server for Biology, 2025

40766425 (PubMed )
Supplement: media-2.xlsx › GSCvariants

Precision proteogenomics reveals pan-cancer impact of germline variants.

Martins Rodrigues F et al.

Cell, 2025

Experimental System Design and Modelling of EGFR Extracellular Domain and Its Mutant Binding to Antibody Interacting Partner.

Erdemir F et al.

International Journal of Molecular Sciences, 2025

Integrating functional proteomics and next generation sequencing reveals potential therapeutic targets for Taiwanese breast cancer.

Ku WC et al.

Clinical Proteomics, 2025

39844043 (PubMed )
Supplement: 12014_2025_9526_MOESM2_ESM.xlsx › ___1

Investigation of Exome-Wide Tumor Heterogeneity on Colorectal Tissue-Based Single Cells.

Szakállas N et al.

International Journal of Molecular Sciences, 2025

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: Table2.xls › Sheet1

Case Report: Recognition and management of SMARCA4-deficient renal cell carcinoma.

Wang W et al.

Frontiers in Oncology, 2025

Identification of novel germline and somatic mutations associated with hepatocellular carcinoma by next-generation sequencing.

Laaribi AB et al.

Frontiers in Pharmacology, 2025

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Longitudinal multiomics analysis of aggressive pituitary neuroendocrine tumors: comparing primary and recurrent tumors from the same patient, reveals genomic stability and heterogeneous transcriptomic profiles with alterations in metabolic pathways.

Taniguchi-Ponciano K et al.

Acta Neuropathologica Communications, 2024

Genomic and transcriptomic profiles associated with response to eribulin and nivolumab combination in HER-2-negative metastatic breast cancer.

Park C et al.

Cancer Immunology, Immunotherapy : Cii, 2024

39105849 (PubMed )
Supplement: 262_2024_3782_MOESM1_ESM.pdf

A pilot study of nintedanib in molecularly selected patients with advanced non-small cell lung cancer.

Auberle C et al.

Journal of Thoracic Disease, 2024

Associations between Radiomics and Genomics in Non-Small Cell Lung Cancer Utilizing Computed Tomography and Next-Generation Sequencing: An Exploratory Study.

Ottaiano A et al.

Genes, 2024

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15

Agnostic Administration of Targeted Anticancer Drugs: Looking for a Balance between Hype and Caution.

Aleksakhina SN et al.

International Journal of Molecular Sciences, 2024

Tumor characteristics of dissociated response to immune checkpoint inhibition in advanced melanoma.

Versluis JM et al.

Cancer Immunology, Immunotherapy : Cii, 2024

Assessment of HER1 (rs11543848) and HER2 (rs1136201) polymorphism and their association with colorectal cancer susceptibility in Khyber Pakhtunkhwa, Pakistan.

Ullah A et al.

Molecular Biology Reports, 2023

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S11.HighCovVariantsSurvPanel

Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.

Pipek O et al.

International Journal of Molecular Sciences, 2023

37239898 (PubMed )
Supplement: ijms-24-08553-s001.zip › Supp_Fig_1_new.pdf

Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.

Orzan F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36648487 (PubMed )
Supplement: ccr-22-2903_supplementary_data_2_suppds2.xlsx › Variants_identidied_in_Cohort1

Whole exome analysis reveals the genomic profiling related to chemo-resistance in Chinese population with limited-disease small cell lung cancer.

Yu J et al.

Cancer Medicine, 2023

Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and Shadows.

Montella M et al.

Journal of Personalized Medicine, 2022

Two independent variants of epidermal growth factor receptor associated with risk of glioma in a Korean population.

Baek IK et al.

Scientific Reports, 2022

The spindle assembly checkpoint is a therapeutic vulnerability of CDK4/6 inhibitor-resistant ER+ breast cancer with mitotic aberrations.

Soria-Bretones I et al.

Science Advances, 2022

36070391 (PubMed )
Supplement: sciadv.abq4293_tables_s2_and_s3.zip › sciadv.abq4293_table_s2.xlsx › Table_S2

Analysis of polymorphisms in EGF, EGFR and HER2 genes in pancreatic neuroendocrine tumors (PNETs).

Marinović S et al.

Cancer Genetics, 2022

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › Kato_III

Molecular Targets in Lung Cancer: Study of the Evolution of Biomarkers Associated with Treatment with Tyrosine Kinase Inhibitors-Has NF1 Tumor Suppressor a Key Role in Acquired Resistance?

Alen BO et al.

Cancers, 2022

35884384 (PubMed )
Supplement: cancers-14-03323-s001.zip › SUPPLEMENTARY_MATERIAL.xlsx › S6

Predicting drug response and toxicity in metastatic colorectal cancer: the role of germline markers.

Bignucolo A et al.

Expert Review of Clinical Pharmacology, 2022

Cancer genomic profiling identified dihydropyrimidine dehydrogenase deficiency in bladder cancer promotes sensitivity to gemcitabine.

Tsukahara S et al.

Scientific Reports, 2022

35595780 (PubMed )
Supplement: 41598_2022_12528_MOESM2_ESM.pdf

EGFR R521K Polymorphism Is Not a Major Determinant of Clinical Cetuximab Resistance in Head and Neck Cancer.

Cserepes M et al.

Cancers, 2022

Clinical implications of germline variations for treatment outcome and drug resistance for small molecule kinase inhibitors in patients with non-small cell lung cancer.

Heersche N et al.

Drug Resistance Updates : Reviews and Commentaries in Antimicrobial and Anticancer Chemotherapy, 2022

A Phase 2 Trial of Afatinib in Patients with Solid Tumors that Harbor Genomic Aberrations in the HER family: The MOBILITY3 Basket Study.

Salawu A et al.

Targeted Oncology, 2022

The Genomic Landscape of Corticotroph Tumors: From Silent Adenomas to ACTH-Secreting Carcinomas.

Andonegui-Elguera S et al.

International Journal of Molecular Sciences, 2022

A Comprehensive Investigation of Steroidogenic Signaling in Classical and New Experimental Cell Models of Adrenocortical Carcinoma.

Sigala S et al.

Cells, 2022

35563746 (PubMed )
Supplement: cells-11-01439-s001.zip › cells-1658167-supplementary.pdf

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
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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."