Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.D842V
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PDGFRA

NM_006206.6:p.D842V

Associated Papers

Dideoxy Sequencing Enhances Detection of KIT Mutations in Gastrointestinal Stromal Tumors Initially Evaluated by Next-Generation Sequencing Hotspot Panels.

Robinson L et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Gastrointestinal Stromal Tumors: Molecular Mechanisms of Drug Resistance and Advances in Therapeutic Strategies.

Jingnuo D et al.

Journal of Gastroenterology and Hepatology, 2026

Prediction of Mutations and Outcome in Gastrointestinal Stromal Tumors with Deep Learning: A Multicenter, Multinational Study.

Bonetti A et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

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

Tao K et al.

Cancer Science, 2026

De novo H3.3K27M-altered diffuse midline glioma in human brainstem organoids to dissect GD2 CAR T cell function.

Bessler N et al.

Nature Cancer, 2026

The Evolving Role of Second- and Third-Generation Tyrosine Kinase Inhibitors in Gastrointestinal Malignancies: Advances in Targeted Therapy with Sunitinib, Regorafenib, and Avapritinib.

Kawczak P et al.

Journal of Clinical Medicine, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Investigation of a global mouse methylome atlas reveals subtype-specific copy number alterations in pediatric cancer models.

Schoof M et al.

Nature Genetics, 2026

Clinicopathological features of PDGFRA D842Y-mutant gastrointestinal stromal tumors: insights from four cases.

Kanda T et al.

International Cancer Conference Journal, 2026

Gastrointestinal Stromal Tumors: Histopathological Spectrum, Molecular Subtypes, and Implications for Targeted Therapy.

Qasim H et al.

Cureus, 2026

Sporadic Multiple Gastrointestinal Stromal Tumors With Distinct KIT and PDGFRA Mutations in Two Separate Tumors: A Case Report and Literature Review.

Akincioglu E et al.

International Journal of Surgical Pathology, 2025

Performance and clinical utility of two targeted multigene panels for GIST molecular characterization.

Nannini M et al.

Scientific Reports, 2025

41407759 (PubMed )
Supplement: 41598_2025_30548_MOESM1_ESM.pdf

INSM1 governs a neuronal progenitor state that drives glioblastoma in a human stem cell model.

DeSouza PA et al.

Nature Communications, 2025

Extended molecular profiling in mesenchymal tumors: a consensus paper from the Italian Sarcoma Group.

D'Ambrosio L et al.

Critical Reviews in Oncology/hematology, 2025

Comprehensive Molecular Screening by Next Generation Sequencing of Gastrointestinal Stromal Tumors (GISTs): In Silico Analysis and Classification of Rare KIT Exon 11 Mutations.

Rodriquenz MG et al.

Cancer Medicine, 2025

Mutational landscape of gastrointestinal stromal tumors using next-generation sequencing of a 73-gene panel.

Wang C et al.

World Journal of Surgical Oncology, 2025

Clinical significance of comprehensive genomic profiling in unresectable or recurrent gastrointestinal stromal tumors: a multicenter retrospective cohort study.

Kawabata K et al.

Journal of Gastroenterology, 2025

Resource: A compendium of HLA types and expression in pediatric cancer models.

Guan Y et al.

Iscience, 2025

41312385 (PubMed )
Supplement: mmc4.xlsx › S3.1_pVACseq

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

High clinical actionability of a pan-cancer tissue-based combined DNA and RNA next generation sequencing assay in a diverse Asian population.

Lee JY et al.

Npj Precision Oncology, 2025

Shaping Precision Medicine: The Journey of Sequencing Technologies Across Human Solid Tumors.

Li W et al.

Biomedicines, 2025

Clinical Actionability of Genes in Gastrointestinal Tumors.

Saoudi Gonzalez N et al.

Genes, 2025

H3K27M diffuse midline glioma is homologous recombination defective and sensitized to radiotherapy and NK cell-mediated antitumor immunity by PARP inhibition.

Guo Y et al.

Neuro-oncology, 2025

Development and Performance Validation of a Comprehensive Liquid Biopsy Genotyping Panel for Pan-cancer Analysis.

Lim S et al.

Annals of Laboratory Medicine, 2025

40888113 (PubMed )
Supplement: alm-46-2-210-supple.pdf

Clinical impact of primary and secondary KIT mutations on the efficacy of molecular-targeted therapies in gastrointestinal stromal tumors.

Kawabata K et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2025

Gene actionability according to the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT) in No Specific Molecular Profile (NSMP) endometrial cancer.

Mastrantoni L et al.

Esmo Open, 2025

40907210 (PubMed )
Supplement: mmc1.docx

Single-Cell Profiling of Pediatric High-Grade Gliomas Reveals OPC-Like Subpopulations Driving Tumorigenic Lineage Transitions.

Tian T et al.

Pediatric Discovery, 2025

Clinical and preclinical insights into a novel MDM2::PDGFRA fusion in recurrent glioblastoma.

Beach CZ et al.

Npj Precision Oncology, 2025

Pimitespib therapy for a patient with PDGFRA D842V-mutant gastrointestinal stromal tumor.

Kanda T et al.

Clinical Journal of Gastroenterology, 2025

Massively parallel immunopeptidome by DNA sequencing provides insights into cancer antigen presentation.

Shi Q et al.

Nature Genetics, 2025

40721532 (PubMed )
Supplement: 41588_2025_2268_MOESM6_ESM.xls › oncogene_mutation

RAS pathway targeted therapy in patients with DICER1-associated sarcomas.

Zhang L et al.

Npj Precision Oncology, 2025

FGFR2 residence in primary cilia is necessary for epithelial cell signaling.

Nita A et al.

The Journal of Cell Biology, 2025

M4205 (IDRX-42) Is a Highly Selective and Potent Inhibitor of Relevant Oncogenic Driver and Resistance Variants of KIT in Cancer.

Esdar C et al.

Molecular Cancer Therapeutics, 2025

A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.

Das K et al.

Scientific Reports, 2025

40593313 (PubMed )
Supplement: 41598_2025_8039_MOESM1_ESM.xlsx › Supplementary_Table_S6

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

Epidermal growth factor receptors unveiled: a comprehensive survey on mutations, clinical insights of global inhibitors, and emergence of heterocyclic derivatives as EGFR inhibitors.

C M et al.

Journal of Drug Targeting, 2025

Prospective study of the real impact of fusion centered genomic assays in patient management in a national collaborative group: the GETHI-XX-16 study.

Navarro P et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2025

Effects of first‑line therapies in patients with locally advanced gastrointestinal stromal tumors with KIT and PDGFRα gene mutations: A single‑center study.

Su WC et al.

Oncology Letters, 2025

Navigating Ongoing Challenges in GI Stromal Tumors.

Joensuu H et al.

American Society of Clinical Oncology Educational Book. American Society of Clinical Oncology. Annual Meeting, 2025

Integrative Multi-Omics Analysis Identifies Nuclear Factor I as a Key Driver of Dysregulated Purine Metabolism in DIPG.

Mersich I et al.

Biorxiv : the Preprint Server for Biology, 2025

Clinicopathological characteristics of progressive gastrointestinal stromal tumors and heterogeneity analyses of secondary mutations.

Li J et al.

The Oncologist, 2025

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S2

Clinical Use of Liquid-Based Comprehensive Genomic Profiling in Gastrointestinal Stromal Tumors.

Mechahougui H et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2025

Selective internal radiation with Y-90 resin microspheres (SIRT) for liver metastases of gastro-intestinal stromal tumors (GIST) resistant to tyrosine kinase inhibitor (TKI) therapy.

Hohenberger P et al.

British Journal of Cancer, 2025

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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."