Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.V530I
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KIT

NM_000222.3:p.V530I

Associated Papers

Comparison of somatic variant oncogenicity classification using ClinGen/CGC/VICC guidelines and QIAGEN Clinical Insight Interpret decision support software.

Goverdhan A et al.

Cancer Genetics, 2025

Durable Response to Pazopanib (Tyrosine Kinase Inhibitor) in a Patient With EWSR1::CREM Gene Fusion Positive Intra-Abdominal Unclassified Epithelioid Sarcoma.

Shafi S et al.

Genes, Chromosomes & Cancer, 2025

Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA for Identification of Targetable and Resistance Alterations in Advanced Solid Tumors.

Chan HT et al.

Clinical Chemistry, 2025

40320741 (PubMed )
Supplement: hvaf045_supplementary_data.zip › Supplementary_tables_revision4.pdf

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

Impact of KIT mutation on efficacy of venetoclax and hypomethylating agents in newly diagnosed acute myeloid leukemia.

Shu W et al.

European Journal of Medical Research, 2025

Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.

Yao J et al.

Frontiers in Immunology, 2025

40519936 (PubMed )
Supplement: Table1.xlsx › SNV

Targeted mutational profiling of Epstein Barr virus-positive mucocutaneous ulcer: Implications for differential diagnosis with EBV-positive diffuse large B-cell lymphoma.

Volaric AK et al.

Annals of Diagnostic Pathology, 2024

Correlation Analysis of Genetic Mutations and Galectin Levels in Breast Cancer Patients.

Markalunas EG et al.

Genes, 2024

Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes.

Kim JJ et al.

Cancer Research and Treatment, 2024

37475138 (PubMed )
Supplement: crt-2023-667-Supplementary-Table-S2.pdf

KIT V560D-Mutated Systemic Mastocytosis Associated With High-Risk Myelodysplastic Syndrome: A Unique Case of Systemic Mastocytosis-Associated Hematologic Neoplasm.

Medawar G et al.

Case Reports in Hematology, 2024

Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.

Wallen ZD et al.

Frontiers in Oncology, 2024

39664186 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

Validation of a Molecular Diagnostic Test for Circulating Tumor DNA by Next-Gen Sequencing.

Fernandez SV et al.

International Journal of Molecular Sciences, 2023

European Real-World Assessment of the Clinical Validity of a CE-IVD Panel for Ultra-Fast Next-Generation Sequencing in Solid Tumors.

Normanno N et al.

International Journal of Molecular Sciences, 2023

37762091 (PubMed )
Supplement: ijms-24-13788-s001.zip › ijms-2565357-supplementary_Table_S3_R1.xlsx › Supplementary_table_s3

Avapritinib is effective for treatment of minimal residual disease in acute myeloid leukemia with t (8;21) and kit mutation failing to immunotherapy after allogeneic hematopoietic stem cell transplantation.

Kong J et al.

Bone Marrow Transplantation, 2023

Synchronous thyroid cancer and malignant struma ovarii: concordant mutations and microRNA profile, discordant loss of heterozygosity loci.

Seo GT et al.

Diagnostic Pathology, 2023

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Bhai P et al.

Frontiers in Oncology, 2023

37483495 (PubMed )
Supplement: Table_4.xlsx › All_melanoma-targeted_subpanel

Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.

Bhai P et al.

Current Oncology (toronto, Ont.), 2022

36290845 (PubMed )
Supplement: curroncol-29-00568-s001.zip › Supplementary_File_I.xlsx › All_patients_Erythrocytosis

Molecular Divergence upon EGFR-TKI Resistance Could Be Dependent on the Exon Location of the Original EGFR-Sensitizing Mutation.

Serna-Blasco R et al.

Cancers, 2022

36139605 (PubMed )
Supplement: cancers-14-04446-s001.zip › Supplemental_data_S4.xlsx › variants_datasheet

The genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis.

Zagaria A et al.

Experimental Hematology & Oncology, 2022

36031623 (PubMed )
Supplement: 40164_2022_301_MOESM3_ESM.xlsx › Foglio1

KIT Mutations Correlate with Higher Galectin Levels and Brain Metastasis in Breast and Non-Small Cell Lung Cancer.

Funkhouser AT et al.

Cancers, 2022

Serial monitoring of genomic alterations in circulating tumor cells of ER-positive/HER2-negative advanced breast cancer: feasibility of precision oncology biomarker detection.

Cani AK et al.

Molecular Oncology, 2022

34866317 (PubMed )
Supplement: MOL2-16-1969-s001.pdf

Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

Chevrier S et al.

International Journal of Molecular Medicine, 2022

35244186 (PubMed )
Supplement: Supplementary_Data2.xlsx › Feuil1

Utility of Select Gene Mutation Detection in Tumors by the Idylla Rapid Multiplex PCR Platform in Comparison to Next-Generation Sequencing.

Nkosi D et al.

Genes, 2022

35627184 (PubMed )
Supplement: genes-13-00799-s001.zip › genes-1613678-supplementary.pdf

Mutated KIT Tyrosine Kinase as a Novel Molecular Target in Acute Myeloid Leukemia.

Katagiri S et al.

International Journal of Molecular Sciences, 2022

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_SNVs

Next-Generation Sequencing in Lung Cancer Patients: A Comparative Approach in NSCLC and SCLC Mutational Landscapes.

Pop-Bica C et al.

Journal of Personalized Medicine, 2022

Microsatellite Instability Is Rare in the Admixed Brazilian Population of Non-Small Cell Lung Cancer: A Cohort of 526 Cases.

De Marchi P et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2022

Clonal Hematopoiesis at the Crossroads of Inflammatory Bowel Diseases and Hematological Malignancies: A Biological Link?

Cumbo C et al.

Frontiers in Oncology, 2022

Pathogenic and diagnostic relevance of KIT in primary mast cell activation disorders.

Muñoz-González JI et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2021

Analytical Validation of a Pan-Cancer Panel for Cell-Free Assay for the Detection of EGFR Mutations.

So MK et al.

Diagnostics (basel, Switzerland), 2021

The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.

Ayala R et al.

Cancers, 2021

34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_1.xlsx › S_Data_1

Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study.

Vantyghem S et al.

Haematologica, 2021

Ultradeep targeted sequencing of circulating tumor DNA in plasma of early and advanced breast cancer.

Chin YM et al.

Cancer Science, 2021

33075187 (PubMed )
Supplement: CAS-112-454-s002.xlsx › Table_S5

EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Jin R et al.

Frontiers in Oncology, 2021

34195081 (PubMed )
Supplement: Table_2.xlsx › EGFR-Mutant_ADC

High level MYCN amplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma.

Raffeld M et al.

Acta Neuropathologica Communications, 2020

32641156 (PubMed )
Supplement: 40478_2020_973_MOESM2_ESM.xlsx › Sheet1

Clonal hematopoiesis and risk of acute myeloid leukemia.

Young AL et al.

Haematologica, 2019

Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Durham BH et al.

Nature Medicine, 2019

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

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

Connecting the dots between different networks: miRNAs associated with bladder cancer risk and progression.

Braicu C et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

31665050 (PubMed )
Supplement: 13046_2019_1406_MOESM9_ESM.xlsx › NGS_all_data

Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Manca A et al.

Journal of Translational Medicine, 2019

31455347 (PubMed )
Supplement: 12967_2019_2039_MOESM1_ESM.xlsx › Discovery_cohort_nsyn_variants

Oncologist uptake of comprehensive genomic profile guided targeted therapy.

Nesline MK et al.

Oncotarget, 2019

31384390 (PubMed )
Supplement: oncotarget-10-4616-s003.xlsx › TblS2TargetedTherapyDecisions

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark
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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."