Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.D846Y
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PDGFRA

NM_006206.6:p.D846Y

Associated Papers

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

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

He C et al.

Current Treatment Options in Oncology, 2024

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

Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.

Bedics G et al.

Scientific Reports, 2023

37891325 (PubMed )
Supplement: 41598_2023_45786_MOESM2_ESM.xlsx › Table_S2

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

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 › S5.LowCoverageVariantsExpPanel

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

Enhancing oral squamous cell carcinoma prediction: the prognostic power of the worst pattern of invasion and the limited impact of molecular resection margins.

Hurník P et al.

Frontiers in Oncology, 2023

38188288 (PubMed )
Supplement: Table_5.xlsx › S5

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

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

Update on Molecular Genetics of Gastrointestinal Stromal Tumors.

Brčić I et al.

Diagnostics (basel, Switzerland), 2021

Not all KIT 557/558 codons mutations have the same prognostic influence on recurrence-free survival: breaking the exon 11 mutations in gastrointestinal stromal tumors (GISTs).

Incorvaia L et al.

Therapeutic Advances in Medical Oncology, 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

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

Smrke A et al.

Future Oncology (london, England), 2020

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

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 › 3

Familial PDGFRA-mutation syndrome: somatic and gastrointestinal phenotype.

Manley PN et al.

Human Pathology, 2018

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Molecular characterization and pathogenesis of gastrointestinal stromal tumor.

Niinuma T et al.

Translational Gastroenterology and Hepatology, 2018

Oncogene mutational analysis in Chinese gastrointestinal stromal tumor patients.

Chen Q et al.

Oncotargets and Therapy, 2018

Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Gudernova I et al.

Oncotarget, 2017

29312610 (PubMed )
Supplement: oncotarget-08-109319-s003.docx

Characterizing gastrointestinal stromal tumors and evaluating neoadjuvant imatinib by sequencing of endoscopic ultrasound-biopsies.

Hedenström P et al.

World Journal of Gastroenterology, 2017

Familial Gastrointestinal Stromal Tumor with Germline KIT Mutations Accompanying Hereditary Breast and Ovarian Cancer Syndrome.

Sekido Y et al.

Anticancer Research, 2017

Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology.

Ibarrola-Villava M et al.

Oncotarget, 2016

26968814 (PubMed )
Supplement: oncotarget-07-22543-s001.pdf

Overexpression of wildtype EGFR is tumorigenic and denotes a therapeutic target in non-small cell lung cancer.

Xu N et al.

Oncotarget, 2016

26646697 (PubMed )
Supplement: oncotarget-07-3884-s001.pdf

Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Lee JY et al.

Oncotarget, 2015

26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1

Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Park K et al.

Oncotarget, 2015

26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1

PDGFRA-mutant syndrome.

Ricci R et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2015

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE et al.

The Journal of Molecular Diagnostics : Jmd, 2014

Hotspot mutations in common oncogenes are infrequent in nasopharyngeal carcinoma.

Jiang N et al.

Oncology Reports, 2014

Genetic mutation screen in early non--small-cell lung cancer (NSCLC) specimens.

Bar J et al.

Clinical Lung Cancer, 2014

High-resolution melting analysis is a sensitive diagnostic tool to detect imatinib-resistant and imatinib-sensitive PDGFRA exon 18 mutations in gastrointestinal stromal tumors.

Künstlinger H et al.

Human Pathology, 2014

Chromosomal aberrations in primary PDGFRA-mutated gastrointestinal stromal tumors.

Schaefer IM et al.

Human Pathology, 2014

Oncogene mutational profile in nasopharyngeal carcinoma.

Zhang ZC et al.

Oncotargets and Therapy, 2014

High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Kim S et al.

Plos One, 2014

25372287 (PubMed )
Supplement: pone.0111693.s003.xls › ion_ampliseq_cancer_panel_mutat

Value of epithelioid morphology and PDGFRA immunostaining pattern for prediction of PDGFRA mutated genotype in gastrointestinal stromal tumors (GISTs).

Agaimy A et al.

International Journal of Clinical and Experimental Pathology, 2013

Common oncogenic mutations are infrequent in oral squamous cell carcinoma of Asian origin.

Zanaruddin SN et al.

Plos One, 2013

24224046 (PubMed )
Supplement: pone.0080229.s001.zip › File_S1 › Table_S3-OncoCarta_Assays.xlsx › Sheet1

Inherited gastrointestinal stromal tumor syndromes: mutations, clinical features, and therapeutic implications.

Postow MA et al.

Clinical Sarcoma Research, 2012

Crenolanib inhibits the drug-resistant PDGFRA D842V mutation associated with imatinib-resistant gastrointestinal stromal tumors.

Heinrich MC et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Pommier SJ et al.

Annals of Surgical Oncology, 2012

21748247 (PubMed )
Supplement: 10434_2011_1892_MOESM2_ESM.pdf

Novel imatinib-sensitive PDGFRA-activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease.

Elling C et al.

Blood, 2011

Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma.

Deshpande V et al.

Bmc Cancer, 2011

21303542 (PubMed )
Supplement: 1471-2407-11-60-S1.XLS › Table_1_OM3_core_sites

Multiple non-metastatic gastrointestinal stromal tumors. Differential features.

Díaz-Delgado M et al.

Revista Espanola De Enfermedades Digestivas, 2010

Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways.

Veiga I et al.

Genes, Chromosomes & Cancer, 2010

Profiling critical cancer gene mutations in clinical tumor samples.

MacConaill LE et al.

Plos One, 2009

19924296 (PubMed )
Supplement: pone.0007887.s002.xls › Table_S1_

Kinase domain mutations in cancer: implications for small molecule drug design strategies.

Bikker JA et al.

Journal of Medicinal Chemistry, 2009

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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."