Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.P567P
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PDGFRA

NM_006206.6:p.P567P

Associated Papers

Tumor-normal sequencing reveals novel TP53 germline and clinically actionable somatic mutations in Nigerian breast cancer patients.

Onyia AF et al.

Cancer Genetics, 2026

BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.

Golan H et al.

Bmc Cancer, 2025

41174508 (PubMed )
Supplement: 12885_2025_14595_MOESM2_ESM.xls › high-confidence_variants__2_

Mutational profiling using liquid biopsy to guide targeted therapy in patients with metastatic cancer.

Mazouji O et al.

Scientific Reports, 2025

40169620 (PubMed )
Supplement: 41598_2025_88094_MOESM1_ESM.xlsx › Feuil1

Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

Kerle IA et al.

Npj Precision Oncology, 2025

39794422 (PubMed )
Supplement: 41698_2024_788_MOESM7_ESM.xlsx › patient_10_panel_small_variants

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: Table2.xls › Sheet1

Identification of novel germline and somatic mutations associated with hepatocellular carcinoma by next-generation sequencing.

Laaribi AB et al.

Frontiers in Pharmacology, 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

Next-Generation DNA Sequencing of Grade 1 Meningioma Tumours: A Case Report of Angiomatous and Psammomatous Meningiomas.

Taher MM et al.

Cureus, 2024

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 › S11.HighCovVariantsSurvPanel

Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing.

Taher MM et al.

Cureus, 2023

Multiple primary malignances managed with surgical excision: a case report with next generation sequencing analysis.

Romano C et al.

Molecular Biology Reports, 2022

Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.

Kaissarian NM et al.

Journal of the National Cancer Institute, 2022

Cerebellar liponeurocytoma: clinical, histopathological and molecular features of a series of three cases, including one recurrent tumor.

Broggi G et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2022

The Molecular Subtype of Adult Acute Lymphoblastic Leukemia Samples Determines the Engraftment Site and Proliferation Kinetics in Patient-Derived Xenograft Models.

Richter A et al.

Cells, 2022

Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.

Qian H et al.

Frontiers in Genetics, 2022

35547262 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2

Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.

Yang PS et al.

Frontiers in Oncology, 2022

35936696 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_4.xlsx › ___2

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Cowan RW et al.

Clinical and Translational Gastroenterology, 2021

34797250 (PubMed )
Supplement: ct9-12-e00431-s005.xlsx › SDC5

Calibration-free NGS quantitation of mutations below 0.01% VAF.

Dai P et al.

Nature Communications, 2021

34675197 (PubMed )
Supplement: 41467_2021_26308_MOESM6_ESM.xlsx › Supplementary_Data_5

Mutation Profiling of Intracranial Myxopapillary Ependymoma by Next Generation DNA Sequencing.

Taher MM et al.

The Gulf Journal of Oncology, 2021

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Fu W et al.

Bmc Medical Genomics, 2021

34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data

Detection of activating mutations in liquid biopsy of Egyptian breast cancer patients using targeted next-generation sequencing: a pilot study.

Kassem N et al.

Journal of the Egyptian National Cancer Institute, 2021

Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Yoshizawa T et al.

Npj Precision Oncology, 2021

33863983 (PubMed )
Supplement: 41698_2021_170_MOESM4_ESM.xlsx › Pre_Post_Afatinibshared_variant

Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

Grzywa TM et al.

International Journal of Molecular Sciences, 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

Identification of PKHD1 mutations in Brain, Breast and Rectal tumors by Next Generation DNA Sequencing.

Mohammed Almehmadi D et al.

The Gulf Journal of Oncology, 2021

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Adamantinomatous Craniopharyngioma in an Adult: A Case Report with NGS Analysis.

Jastania RA et al.

International Medical Case Reports Journal, 2020

Next-Generation Sequencing at High Sequencing Depth as a Tool to Study the Evolution of Metastasis Driven by Genetic Change Events of Lung Squamous Cell Carcinoma.

Mansour H et al.

Frontiers in Oncology, 2020

Cutaneous metastasis as a primary presentation of a pulmonary enteric adenocarcinoma.

Todisco A et al.

The International Journal of Biological Markers, 2019

Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study.

Spence T et al.

Current Oncology (toronto, Ont.), 2019

Genetic heterogeneity of indeterminate thyroid nodules assessed preoperatively with next-generation sequencing reflects the diversity of the final histopathologic diagnosis.

Borowczyk M et al.

Polish Archives of Internal Medicine, 2019

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

Next generation DNA sequencing of atypical choroid plexus papilloma of brain: Identification of novel mutations in a female patient by Ion Proton.

Taher MM et al.

Oncology Letters, 2019

Case report of rhabdomyosarcomatous transformation of a primary gastrointestinal stromal tumor (GIST).

Li L et al.

Bmc Cancer, 2019

Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Jungwirth G et al.

Acta Neuropathologica Communications, 2019

31470906 (PubMed )
Supplement: 40478_2019_793_MOESM1_ESM.xlsx › MPILEUP_SNP

VARIFI-Web-Based Automatic Variant Identification, Filtering and Annotation of Amplicon Sequencing Data.

Krunic M et al.

Journal of Personalized Medicine, 2019

30717290 (PubMed )
Supplement: jpm-09-00010-s001.zip › Table_S6.xlsx › Sheet1

Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.

Pan ZW et al.

Frontiers in Oncology, 2019

30967997 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Mutation profiling of anaplastic ependymoma grade III by Ion Proton next generation DNA sequencing.

Butt E et al.

F1000research, 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 › REF4

NGS-dataset of putative driver mutations associated with benign peritoneal strumosis.

Brockmann M et al.

Data in Brief, 2018

Genetic Mutations in a Patient with Chronic Myeloid Leukemia Showing Blast Crisis 10 Years After Presentation.

Sklarz LM et al.

Anticancer Research, 2018

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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."