Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.N659Y
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PDGFRA

NM_006206.6:p.N659Y

Associated Papers

Multifocal gastrointestinal stromal tumor with osseous metaplasia: a case report.

Al Saleem MA et al.

Journal of Medical Case Reports, 2023

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Gounder MM et al.

Nature Communications, 2022

35705558 (PubMed )
Supplement: 41467_2022_30496_MOESM2_ESM.xls › variants_table_final_for_supple

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

Driver gene alterations and activated signaling pathways toward malignant progression of gastrointestinal stromal tumors.

Ohshima K et al.

Cancer Science, 2019

31553483 (PubMed )
Supplement: CAS-110-3821-s008.xlsx › Table_S2

Receptor Tyrosine Kinase-Targeted Cancer Therapy.

Yamaoka T et al.

International Journal of Molecular Sciences, 2018

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

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

Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

de Leng WW et al.

Plos One, 2016

26919633 (PubMed )
Supplement: pone.0149405.s010.xlsx › testset

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

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

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

Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.

Tone AA et al.

Bmc Cancer, 2014

25523272 (PubMed )
Supplement: 12885_2014_5198_MOESM14_ESM.xlsx › Sheet1__2_

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

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

Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas.

Griewank KG et al.

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

23633454 (PubMed )
Supplement: 10780432ccr130163-sup-tab1-3.pdf

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

The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation.

Wong NA et al.

Journal of Clinical Pathology, 2012

Predicting the functional impact of protein mutations: application to cancer genomics.

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

The low frequency of clinical resistance to PDGFR inhibitors in myeloid neoplasms with abnormalities of PDGFRA might be related to the limited repertoire of possible PDGFRA kinase domain mutations in vitro.

von Bubnoff N et al.

Oncogene, 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

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

Lasota J et al.

Histopathology, 2008

PDGFRA immunostaining can help in the diagnosis of gastrointestinal stromal tumors.

Miselli F et al.

The American Journal of Surgical Pathology, 2008

GISTs with PDGFRA exon 14 mutations represent subset of clinically favorable gastric tumors with epithelioid morphology.

Lasota J et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2006

[c-kit and PDGFRA mutations in 60 cases of gastrointestinal stromal tumors (GISTs)].

He HY et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2005

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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."