Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.N659K
Back to variants list

PDGFRA

NM_006206.6:p.N659K

Associated Papers

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

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

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

DICER1 Mutational Spectrum in Intracranial CNS-Neoplasias-A Review and a Report from the CNS-InterREST GPOH Study Center.

Manea S et al.

Cancers, 2025

40361440 (PubMed )
Supplement: cancers-17-01513-s001.zip › cancers-3488083-supplementary.xlsx › Blatt_1_-_Tabelle_1

A Cross-Sectional Study of Variant Interpretation and Reporting of NGS Data Using Tertiary Analysis Software: Navify® Mutation Profiler.

Pepe F et al.

Oncology and Therapy, 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: Table3.xls › Mutations_in_primary_tumor

Gene Mutations in Gastrointestinal Stromal Tumors: Advances in Treatment and Mechanism Research.

Cao L et al.

Global Medical Genetics, 2024

Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.

He C et al.

Current Treatment Options in Oncology, 2024

Immune landscape of oncohistone-mutant gliomas reveals diverse myeloid populations and tumor-promoting function.

Andrade AF et al.

Nature Communications, 2024

39237515 (PubMed )
Supplement: 41467_2024_52096_MOESM4_ESM.xlsx › A__Single_cell___nuclei_Samples

Molecular Profiling of KIT/PDGFRA-Mutant and Wild-Type Gastrointestinal Stromal Tumors (GISTs) with Clinicopathological Correlation: An 18-Year Experience at a Tertiary Center in Kuwait.

Ali RH et al.

Cancers, 2024

39199677 (PubMed )
Supplement: cancers-16-02907-s001.zip › cancers-3159199-supplementary.pdf

Therapeutic advances of targeting receptor tyrosine kinases in cancer.

Tomuleasa C et al.

Signal Transduction and Targeted Therapy, 2024

Identification of a putative molecular subtype of adult-type diffuse astrocytoma with recurrent MAPK pathway alterations.

Sievers P et al.

Acta Neuropathologica, 2024

39026106 (PubMed )
Supplement: 401_2024_2766_MOESM1_ESM.xlsx › Supplementary_Table_3

Genomic profiling in GIST: Implications in clinical outcome and future challenges.

Calderillo-Ruíz G et al.

Neoplasia (new York, N.y.), 2024

Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.

Giger OT et al.

Journal of Clinical Pathology, 2023

36198483 (PubMed )
Supplement: jcp-2022-208462supp002.pdf

Morphological, immunohistochemical, and genetic analyses of epithelioid gastrointestinal stromal tumors.

Shi J et al.

Annals of Diagnostic Pathology, 2023

Molecular and clonal evolution in vivo reveal a common pathway of distant relapse gliomas.

Liu G et al.

Iscience, 2023

Molecular Advances in the Treatment of Advanced Gastrointestinal Stromal Tumor.

Venkataraman V et al.

The Oncologist, 2023

Emerging Targeted Therapeutic Strategies to Overcome Imatinib Resistance of Gastrointestinal Stromal Tumors.

Masucci MT et al.

International Journal of Molecular Sciences, 2023

Cooperativity between H3.3K27M and PDGFRA poses multiple therapeutic vulnerabilities in human iPSC-derived diffuse midline glioma avatars.

Skinner KR et al.

Biorxiv : the Preprint Server for Biology, 2023

36865329 (PubMed )
Supplement: media-2.xlsx › pHGG_panel_metadata

Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Suthapot P et al.

Cancers, 2023

Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.

Sheng Z et al.

Frontiers in Oncology, 2023

37920153 (PubMed )
Supplement: Table_1.xlsx › Table_S4.__Targetable_variants

A literature review and database of how the primary KIT/PDGFRA variant of a gastrointestinal stromal tumour predicts for sensitivity to imatinib.

Wong NACS et al.

Cancer Genetics, 2022

Current Molecular Profile of Gastrointestinal Stromal Tumors and Systemic Therapeutic Implications.

Mathias-Machado MC et al.

Cancers, 2022

Ten-Year Survivorship in Patients with Metastatic Gastrointestinal Stromal Tumors.

Sutton TL et al.

Annals of Surgical Oncology, 2022

An overview of agents and treatments for PDGFRA-mutated gastrointestinal stromal tumors.

Sun Y et al.

Frontiers in Oncology, 2022

Comprehensive molecular characterization of pediatric radiation-induced high-grade glioma.

DeSisto J et al.

Nature Communications, 2021

34545084 (PubMed )
Supplement: 41467_2021_25709_MOESM11_ESM.xlsx › ST11

Nationwide evaluation of mutation-tailored treatment of gastrointestinal stromal tumors in daily clinical practice.

Steeghs EMP et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2021

33909171 (PubMed )
Supplement: 10120_2021_1190_MOESM2_ESM.xlsx › Sup._Table_2

Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

He C et al.

Nature Communications, 2021

34215733 (PubMed )
Supplement: 41467_2021_24168_MOESM5_ESM.xlsx › SD2b

Mutational characteristics of gastrointestinal stromal tumors: A single-center analysis of 302 patients.

Liang L et al.

Oncology Letters, 2021

Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant.

Alexandrescu S et al.

Histopathology, 2021

Resistance to Avapritinib in PDGFRA-Driven GIST Is Caused by Secondary Mutations in the PDGFRA Kinase Domain.

Grunewald S et al.

Cancer Discovery, 2021

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Emerging roles of the αC-β4 loop in protein kinase structure, function, evolution, and disease.

Yeung W et al.

Iubmb Life, 2020

Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.

Li H et al.

Frontiers in Oncology, 2020

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Signal Transduction in Diffuse Intrinsic Pontine Glioma.

Duchatel RJ et al.

Proteomics, 2019

H3.3 K27M depletion increases differentiation and extends latency of diffuse intrinsic pontine glioma growth in vivo.

Silveira AB et al.

Acta Neuropathologica, 2019

Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Miller AM et al.

Nature, 2019

30675060 (PubMed )
Supplement: NIHMS1516901-supplement-Sup_Table_5.xlsx › Matched_pair_analysis

Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

MacFarland SP et al.

Jco Precision Oncology, 2019

Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.

Williams HL et al.

Virchows Archiv : an International Journal of Pathology, 2018

30105577 (PubMed )
Supplement: 428_2018_2411_MOESM1_ESM.xlsx › REF2

Cancer gene panel analysis of cultured circulating tumor cells and primary tumor tissue from patients with breast cancer.

Hwang E et al.

Oncology Letters, 2017

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Hamblin A et al.

Plos Medicine, 2017

28196074 (PubMed )
Supplement: pmed.1002230.s004.xlsx › GIST

FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

Shi E et al.

Journal of Translational Medicine, 2016

27974047 (PubMed )
Supplement: 12967_2016_1075_MOESM2_ESM.xlsx › Table_S6

The standard diagnosis, treatment, and follow-up of gastrointestinal stromal tumors based on guidelines.

Nishida T et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2016

Phase II Pilot Study of Vemurafenib in Patients With Metastatic BRAF-Mutated Colorectal Cancer.

Kopetz S et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

26460303 (PubMed )
Supplement: supp_33.34.4032_DS_2015.632497.pdf
1–50 of 78 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."