Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.D820G
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KIT

NM_000222.3:p.D820G

Associated Papers

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

ctDNA as a Molecular Biomarker in the Phase II Trial of Imatinib plus Binimetinib in Patients with Advanced Gastrointestinal Stromal Tumor.

Kelly CM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Pathogenic Mechanisms of Systemic Mastocytosis: Unraveling the Genetic Complexity, Bone Marrow Microenvironment, and Clinical Challenges.

Sotiropoulou CD et al.

European Journal of Haematology, 2025

Novel KIT mutation, D816_N819delinsll, in a patient with systemic mastocytosis: a case report.

Juratli HA et al.

Virchows Archiv : an International Journal of Pathology, 2025

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_6_KIT_pathogenecity.xlsx › Sheet2_SIFT

Clinical and Biological Characteristics of Four Patients with Aggressive Systemic Mastocytosis Treated with Midostaurin.

Soare D et al.

Biomedicines, 2025

Clinicopathological characteristics of progressive gastrointestinal stromal tumors and heterogeneity analyses of secondary mutations.

Li J et al.

The Oncologist, 2025

Clinical Use of Liquid-Based Comprehensive Genomic Profiling in Gastrointestinal Stromal Tumors.

Mechahougui H et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2025

Patient-derived xenograft models of gastrointestinal stromal tumors provide a ready-to-use platform for translational research.

De Sutter L et al.

Disease Models & Mechanisms, 2025

Novel structural variants that impact cell cycle genes are elucidated in metastatic gastrointestinal stromal tumors.

Delgado-de la Mora J et al.

Pathology, Research and Practice, 2025

Clinical implementation of next-generation sequencing testing and genomically-matched therapy: a real-world data in a tertiary hospital.

Kim JW et al.

Scientific Reports, 2025

Case Report: Dramatic response to entritinib in a patient with gastrointestinal stromal tumor positive for NTRK3 fusion.

Dong G et al.

Frontiers in Oncology, 2025

Gene Mutations in Gastrointestinal Stromal Tumors: Advances in Treatment and Mechanism Research.

Cao L et al.

Global Medical Genetics, 2024

Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.

Filetti M et al.

Cancers, 2024

39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.xlsx › Table_S4

Longitudinal ultra-sensitive mutation burden sequencing for precise minimal residual disease assessment in AML.

Wu Y et al.

Nature Communications, 2024

39543210 (PubMed )
Supplement: 41467_2024_54254_MOESM4_ESM.xlsx › No.20

MET amplification correlates with poor prognosis and immunotherapy response as a subtype of melanoma: a multicenter retrospective study.

Cai X et al.

Bmc Cancer, 2024

39528978 (PubMed )
Supplement: 12885_2024_13163_MOESM1_ESM.xlsx › SNVs

Detection of KIT Mutations in Systemic Mastocytosis: How, When, and Why.

Cilloni D et al.

International Journal of Molecular Sciences, 2024

Therapeutic advances of targeting receptor tyrosine kinases in cancer.

Tomuleasa C et al.

Signal Transduction and Targeted Therapy, 2024

Binary classification of copy number alteration profiles in liquid biopsy with potential clinical impact in advanced NSCLC.

Tosello V et al.

Scientific Reports, 2024

39122833 (PubMed )
Supplement: 41598_2024_68229_MOESM1_ESM.pdf

Novel molecular subtypes of intracranial germ cell tumors expand therapeutic opportunities.

Li B et al.

Neuro-oncology, 2024

Whole-exome sequencing has revealed novel genetic characteristics in intracranial germ cell tumours in the Chinese.

Huang X et al.

Histopathology, 2024

Poor Applicability of Currently Available Prognostic Scoring Systems for Prediction of Outcome in KIT D816V-Negative Advanced Systemic Mastocytosis.

Naumann N et al.

Cancers, 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

Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.

McCarter JGW et al.

Blood Advances, 2023

37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Antitumor Efficacy of the Novel KIT Inhibitor IDRX-42 (Formerly M4205) in Patient- and Cell Line-Derived Xenograft Models of Gastrointestinal Stromal Tumor (GIST).

De Sutter L et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

Next-Generation Sequencing-Based Genomic Profiling of Children with Acute Myeloid Leukemia.

Krizsán S et al.

The Journal of Molecular Diagnostics : Jmd, 2023

37088137 (PubMed )
Supplement: mmc4.xlsx › Supplementary_Table_S4

Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management.

Pardanani A

American Journal of Hematology, 2023

Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Cheng CK et al.

Communications Biology, 2023

37002311 (PubMed )
Supplement: 42003_2023_4732_MOESM5_ESM.xlsx › Supplementary_Data_2

Novel Molecular Therapies and Genetic Landscape in Selected Rare Diseases with Hematologic Manifestations: A Review of the Literature.

Ręka G et al.

Cells, 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

c-Kit Receptors as a Therapeutic Target in Cancer: Current Insights.

Abdellateif MS et al.

Oncotargets and Therapy, 2023

Gastrointestinal stromal tumors caused by novel germline variants in SDHB and KIT: a report of two cases and literature review.

Rasmussen S et al.

Clinical Journal of Gastroenterology, 2022

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Jahn N et al.

Leukemia, 2022

35922444 (PubMed )
Supplement: 41375_2022_1650_MOESM2_ESM.xlsx › NGS_dataset

Systemic Mastocytosis and Other Entities Involving Mast Cells: A Practical Review and Update.

El Hussein S et al.

Cancers, 2022

Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

González-López O et al.

Cancers, 2022

Broad spectrum of regorafenib activity on mutant KIT and absence of clonal selection in gastrointestinal stromal tumor (GIST): correlative analysis from the GRID trial.

Jeffers M et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2022

Systematic review and meta-analysis of genomic alterations in acral melanoma.

Broit N et al.

Pigment Cell & Melanoma Research, 2022

35229492 (PubMed )
Supplement: PCMR-35-369-s002.pdf

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

Katagiri S et al.

International Journal of Molecular Sciences, 2022

Phase II Study of Ponatinib in Advanced Gastrointestinal Stromal Tumors: Efficacy, Safety, and Impact of Liquid Biopsy and Other Biomarkers.

George S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

35091442 (PubMed )
Supplement: ccr-21-2037_supplementary_data_supp0.pdf

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

Monitoring Circulating Tumor DNA During Surgical Treatment in Patients with Gastrointestinal Stromal Tumors.

Johansson G et al.

Molecular Cancer Therapeutics, 2021

34552011 (PubMed )
Supplement: 15357163mct210403-sup-264922_2_supp_7338541_qy3h8n.xlsx › Supplementary_Table_S5

Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Zhang Y et al.

Cell Reports, 2021

34788622 (PubMed )
Supplement: NIHMS1757901-supplement-2.xlsx › SNVs_indels

Development and Validation of StrataNGS, a Multiplex PCR, Semiconductor Sequencing-Based Comprehensive Genomic Profiling Test.

Tomlins SA et al.

The Journal of Molecular Diagnostics : Jmd, 2021

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

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
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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."