Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.D816G
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KIT

NM_000222.3:p.D816G

Associated Papers

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

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc8.xlsx › Sheet1

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

Li J et al.

The Oncologist, 2025

Genomic and transcriptomic landscape of human gastrointestinal stromal tumors.

Xie F et al.

Nature Communications, 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

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-Targeted Therapy for Tumor-Agnostic Mutations in Acute Myeloid Leukemia.

Arai H et al.

Biomedicines, 2022

Performance of ImproGene cfDNA blood collection tubes for mutation analysis in cancer patients.

Zhang S et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 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

35050442 (PubMed )
Supplement: 10120_2021_1274_MOESM1_ESM.docx

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

A Multidisciplinary Diagnostic Approach Reveals a Higher Prevalence of Indolent Systemic Mastocytosis: 15-Years' Experience of the GISM Network.

Zanotti R et al.

Cancers, 2021

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

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

Sequence Neighborhoods Enable Reliable Prediction of Pathogenic Mutations in Cancer Genomes.

Banerjee S et al.

Cancers, 2021

34068918 (PubMed )
Supplement: cancers-13-02366-s001.zip › Supplementary_Tables_1202501.xlsx › Table_S7

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

Mastocytosis.

Tzankov A et al.

American Journal of Clinical Pathology, 2021

Mutational spectrum and precision oncology for biliary tract carcinoma.

Lin J et al.

Theranostics, 2021

33754015 (PubMed )
Supplement: thnov11p4585s1.pdf

Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Hamid AB et al.

Cancers, 2020

Is high-risk cutaneous squamous cell carcinoma of the head and neck a suitable candidate for current targeted therapies?

Zilberg C et al.

Journal of Clinical Pathology, 2020

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Resistance-no-BCR-ABL1

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

Genomic aberrations in cell cycle genes predict progression of KIT-mutant gastrointestinal stromal tumors (GISTs).

Heinrich MC et al.

Clinical Sarcoma Research, 2019

Dramatic Response to Lorlatinib in a Patient With CD74-ROS1-Positive Lung Adenocarcinoma With Acquired F2004V Mutation.

Dimou A et al.

Jco Precision Oncology, 2019

Patient harboring a novel PIK3CA point mutation after acquired resistance to crizotinib in an adenocarcinoma with ROS1 rearrangement: A case report and literature review.

Xu CW et al.

Thoracic Cancer, 2017

An Activating KIT Mutation Induces Crizotinib Resistance in ROS1-Positive Lung Cancer.

Dziadziuszko R et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2016

Frequent mono-allelic loss associated with deficient PTEN expression in imatinib-resistant gastrointestinal stromal tumors.

Quattrone A et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2014

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Familial occurrence of systemic mast cell activation disease.

Molderings GJ et al.

Plos One, 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

Gastrointestinal stromal tumors: morphological, immunohistochemical and molecular changes associated with kinase inhibitor therapy.

Díaz Delgado M et al.

Pathology Oncology Research : Por, 2011

V559A and N822I double KIT mutant melanoma with predictable response to imatinib?

McDonnell K et al.

Pigment Cell & Melanoma Research, 2011

Mechanisms of resistance to imatinib and sunitinib in gastrointestinal stromal tumor.

Wang WL et al.

Cancer Chemotherapy and Pharmacology, 2011

The energy landscape analysis of cancer mutations in protein kinases.

Dixit A et al.

Plos One, 2011

21998754 (PubMed )
Supplement: pone.0026071.s009.doc

Rapid targeted mutational analysis of human tumours: a clinical platform to guide personalized cancer medicine.

Dias-Santagata D et al.

Embo Molecular Medicine, 2010

20432502 (PubMed )
Supplement: emmm0002-0146-SD1.xls › MUTATIONS

Sequence and structure signatures of cancer mutation hotspots in protein kinases.

Dixit A et al.

Plos One, 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

Progress in molecular diagnostics of gastrointestinal stromal tumors.

Daum O et al.

Expert Opinion on Medical Diagnostics, 2007

Clonal evolution of resistance to imatinib in patients with metastatic gastrointestinal stromal tumors.

Desai J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2007

Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia.

Corless CL et al.

The Journal of Molecular Diagnostics : Jmd, 2006

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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."