Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.V561D
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PDGFRA

NM_006206.6:p.V561D

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

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

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

A structure-based tool to interpret the significance of kinase mutations in clinical next generation sequencing in cancer.

Rangarajan A et al.

Frontiers in Oncology, 2025

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

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

Two different mutational types of familial gastrointestinal stromal tumors: Two case reports.

Wang XK et al.

World Journal of Gastrointestinal Oncology, 2024

Strain-release alkylation of Asp12 enables mutant selective targeting of K-Ras-G12D.

Zheng Q et al.

Nature Chemical Biology, 2024

38443470 (PubMed )
Supplement: 41589_2024_1565_MOESM1_ESM.pdf

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

Survival of advanced/recurrent gastrointestinal stromal tumors treated with tyrosine kinase inhibitors in Taiwan: a nationwide registry study.

Tsai HJ et al.

Bmc Cancer, 2024

Comparison between next-generation sequencing and multiplex polymerase chain reaction assays for nonsmall-cell lung cancer molecular diagnosis.

Murakami S et al.

Cancer Medicine, 2024

38572952 (PubMed )
Supplement: CAM4-13-e7162-s003.xlsx › DNA_mutations

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

Diagnosis, Treatment, and Prognosis of Patients with Primary Familial Gastrointestinal Stromal Tumor: A Case Report and Literature Review.

Yan M et al.

The Oncologist, 2023

37311038 (PubMed )
Supplement: oyad168_suppl_supplementary_table_s1.docx

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.

Hadad S et al.

Acta Neuropathologica, 2023

38079020 (PubMed )
Supplement: 401_2023_2654_MOESM2_ESM.xlsx › Table_S3

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

A Rare PDGFRA Exon 15 Germline Mutation Identified in a Patient With Phenotypic Manifestations Concerning for GIST-Plus Syndrome: A Case Report and Review of Literature.

Wang C et al.

International Journal of Surgical Pathology, 2023

Molecular Advances in the Treatment of Advanced Gastrointestinal Stromal Tumor.

Venkataraman V et al.

The Oncologist, 2023

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Villani A et al.

Nature Cancer, 2023

36585449 (PubMed )
Supplement: 43018_2022_474_MOESM10_ESM.xlsx › Table_S5_-_Category_C_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

Clinicopathological and therapeutic analysis of PDGFRA mutated gastrointestinal stromal tumor.

Huang W et al.

Pathology, Research and Practice, 2022

miRNA Expression May Have Implications for Immunotherapy in PDGFRA Mutant GISTs.

Ravegnini G et al.

International Journal of Molecular Sciences, 2022

Correlation of treatment outcome in sanger/RT‑qPCR KIT/PDGFRA wild‑type metastatic gastrointestinal stromal tumors with next‑generation sequencing results: A single‑center report.

Unk M et al.

Oncology Reports, 2022

Clinical value of next-generation sequencing in guiding decisions regarding endocrine therapy for advanced HR-positive/HER-2-negative breast cancer.

Lyu D et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2022

Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.

Toss A et al.

Current Oncology Reports, 2022

Discovery of 1H-Pyrazole Biaryl Sulfonamides as Novel G2019S-LRRK2 Kinase Inhibitors.

Leśniak RK et al.

Acs Medicinal Chemistry Letters, 2022

35707141 (PubMed )
Supplement: ml2c00116_si_001.pdf

Broad spectrum of regorafenib activity on mutant KIT and absence of clonal selection in gastrointestinal stromal tumor (GIST): correlative analysis from the GRID trial.

Jeffers M et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2022

35050442 (PubMed )
Supplement: 10120_2021_1274_MOESM1_ESM.docx

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

Sun Y et al.

Frontiers in Oncology, 2022

Genomic and Transcriptomic Analysis of Relapsed and Refractory Childhood Solid Tumors Reveals a Diverse Molecular Landscape and Mechanisms of Immune Evasion.

Byron SA et al.

Cancer Research, 2021

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

PDGF receptor mutations in human diseases.

Guérit E et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Gastrointestinal Stromal Tumor in Monozygotic Twins Shows Distinct Mutational Status: A Case Report.

Sobral-Leite M et al.

The American Journal of Case Reports, 2021

KIT and PDGFRa mutational patterns in Sardinian patients with gastrointestinal stromal tumors.

Palomba G et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 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

Mislocalisation of Activated Receptor Tyrosine Kinases - Challenges for Cancer Therapy.

Schmidt-Arras D et al.

Trends in Molecular Medicine, 2020

Avapritinib in the treatment of PDGFRA exon 18 mutated gastrointestinal stromal tumors.

Smrke A et al.

Future Oncology (london, England), 2020

Myxoid glioneuronal tumor, PDGFRA p.K385-mutant: clinical, radiologic, and histopathologic features.

Lucas CG et al.

Brain Pathology (zurich, Switzerland), 2020

Discovery and pharmacological characterization of AZD3229, a potent KIT/PDGFRα inhibitor for treatment of gastrointestinal stromal tumors.

Banks E et al.

Science Translational Medicine, 2020

GORAB promotes embryonic lung maturation through antagonizing AKT phosphorylation, versican expression, and mesenchymal cell migration.

Liu Y et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

Clinical value of next generation sequencing of plasma cell-free DNA in gastrointestinal stromal tumors.

Serrano C et al.

Bmc Cancer, 2020

Gene Expression Profiling of PDGFRA Mutant GIST Reveals Immune Signatures as a Specific Fingerprint of D842V Exon 18 Mutation.

Indio V et al.

Frontiers in Immunology, 2020

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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."