Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.Y849C
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PDGFRA

NM_006206.6:p.Y849C

Associated Papers

Patient-derived tumoroids recapitulate the morphologic and molecular features of pediatric brain tumors.

Soares-Ferreira B et al.

Npj Precision Oncology, 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

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

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

He C et al.

Current Treatment Options in Oncology, 2024

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

The landscape of actionable genomic alterations in lung adenocarcinomas in India.

Sharma R et al.

Frontiers in Genetics, 2023

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

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

Sutton TL et al.

Annals of Surgical Oncology, 2022

Convergent evolution and multi-wave clonal invasion in H3 K27-altered diffuse midline gliomas treated with a PDGFR inhibitor.

Arunachalam S et al.

Acta Neuropathologica Communications, 2022

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

Smrke A et al.

Future Oncology (london, England), 2020

Genetic rearrangements, hotspot mutations, and microRNA expression in the progression of metastatic adenoid cystic carcinoma of the salivary gland.

Andreasen S et al.

Oncotarget, 2018

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

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

Large-scale analysis of PDGFRA mutations in melanomas and evaluation of their sensitivity to tyrosine kinase inhibitors imatinib and crenolanib.

Dai J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013

Spectrum of mutations in gastrointestinal stromal tumor patients - a population-based study from Slovakia.

Minárik G et al.

Apmis : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica, 2013

Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors.

Belinsky MG et al.

Genes, Chromosomes & Cancer, 2013

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

High density DNA array analysis reveals distinct genomic profiles in a subset of gastrointestinal stromal tumors.

Belinsky MG et al.

Genes, Chromosomes & Cancer, 2009

Disruption of the EGFR E884-R958 ion pair conserved in the human kinome differentially alters signaling and inhibitor sensitivity.

Tang Z et al.

Oncogene, 2009

Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours.

Lasota J et al.

Histopathology, 2008

PDGFRalpha gene mutation and protein expression in gastrointestinal stromal tumors.

Chang HM et al.

Oncology, 2008

Prognostic implications of epidermal and platelet-derived growth factor receptor alterations in 2 cohorts of IDHwt glioblastoma.

Alnahhas I et al.

Neuro-oncology Advances, 0

Phase I study using crenolanib to target PDGFR kinase in children and young adults with newly diagnosed DIPG or recurrent high-grade glioma, including DIPG.

Tinkle CL et al.

Neuro-oncology Advances, 0

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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."