Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.M541L
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KIT

NM_000222.3:p.M541L

Associated Papers

Patient-Derived in Vitro Models Reveal Insights into Medullary Thyroid Cancer Microenvironment and Resistance to Tyrosine Kinase Inhibitors.

Grassi ES et al.

Thyroid : Official Journal of the American Thyroid Association, 2026

Mutational profile of the KIT gene and its heterogeneity in primary and metastatic melanomas.

Quintana Castillo JJA et al.

Journal of Cutaneous Pathology, 2026

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

Onyia AF et al.

Cancer Genetics, 2026

Clinical Management and Genetic Analysis of a Complex Case of Segmental Infantile Hemangioma with Subcutaneous Pelvic and Gluteal Tumefactions.

Yapijakis C et al.

Advances in Experimental Medicine and Biology, 2026

Complex genetic landscape in CLL: Clinical impact on patients' survival and insights into the altered molecular pathways.

Caputo C et al.

Molecular Therapy. Oncology, 2025

Well-differentiated systemic mastocytosis: Genetics, mast cell immunophenotypes, and KIT autophosphorylation.

Schornack BJ et al.

The Journal of Allergy and Clinical Immunology, 2025

Comprehensive Molecular Screening by Next Generation Sequencing of Gastrointestinal Stromal Tumors (GISTs): In Silico Analysis and Classification of Rare KIT Exon 11 Mutations.

Rodriquenz MG et al.

Cancer Medicine, 2025

Identifying actionable genetic mutations and microsatellite instability in liquid biopsy of colorectal cancer.

Kassem NM et al.

Journal, Genetic Engineering & Biotechnology, 2025

Activity of Brigatinib in Patients With Crizotinib-Resistant ALK-positive Non-Small-Cell Lung Cancer According to ALK Fusion and Mutation Status.

Bazhenova L et al.

Clinical Lung Cancer, 2025

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Non-MPL-W515K/L mutations in myeloproliferative neoplasms: Insights from two case reports and a review of the literature.

Tønne Nesse AS et al.

Expert Review of Hematology, 2025

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Prevalence of myeloid gene alterations in paediatric cutaneous and systemic mastocytosis.

Sun X et al.

British Journal of Haematology, 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

Evaluating Liquid Biopsy for Circulating Tumor DNA (ctDNA) Detection as a Complementary Diagnostic Tool in Thyroid Cancer Among Ecuadorian Women.

Cadena-Ullauri S et al.

International Journal of Molecular Sciences, 2025

A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.

Das K et al.

Scientific Reports, 2025

40593313 (PubMed )
Supplement: 41598_2025_8039_MOESM1_ESM.xlsx › Supplementary_Table_S7

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

Molecular characterization of colorectal cancer (CRC) using next generation sequencing (NGS) in bridging the gap between research and clinical practice: from biomarker discovery to clinical implementation.

Afolabi HA et al.

Discover Oncology, 2025

The Fusion Genes and Their Relation with Genetic Variants in Egyptian AML Patients.

Abo Elwafa RAH et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2025

Real-World Evidence of the Prevalence of Driver Mutations in Anorectal Melanoma.

Jutten E et al.

Molecular Diagnosis & Therapy, 2025

Prognostic Significance of Liquid Biopsy-Detected Genetic Alterations in Hepatocellular Carcinoma.

Sarıtaş AG et al.

Journal of Hepatocellular Carcinoma, 2025

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

Laaribi AB et al.

Frontiers in Pharmacology, 2025

Identification of potentially deleterious mutations in gastric cancer using patient-derived xenograft models.

Kong L et al.

Frontiers in Genetics, 2025

Therapeutic advances of targeting receptor tyrosine kinases in cancer.

Tomuleasa C et al.

Signal Transduction and Targeted Therapy, 2024

Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing.

Kassem PH et al.

Bmc Medical Genomics, 2024

Value and limitations of targeted next-generation sequencing in idiopathic hypereosinophilia: an integrative diagnostic tool in challenging cases.

Cattaneo D et al.

Clinical and Experimental Medicine, 2024

Prevalence and impact of the KIT M541L variant in patients with mastocytosis.

Aldama LND et al.

Oncotarget, 2024

Establishment and molecular characterization of HCB-541, a novel and aggressive human cutaneous squamous cell carcinoma cell line.

Laus AC et al.

Human Cell, 2024

Next-generation sequencing as a valuable tool for mutational spectrum in advanced-stage NSCLC patients.

Iurca I et al.

Medicine and Pharmacy Reports, 2024

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

Markalunas EG et al.

Genes, 2024

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

Natural History of Germline BRCA1 Mutated and BRCA Wild-type Triple-negative Breast Cancer.

Gardi N et al.

Cancer Research Communications, 2024

38315150 (PubMed )
Supplement: crc-23-0277-s13.xlsx › Sheet1

Genetic and therapeutic landscapes in cohort of pancreatic adenocarcinomas: next-generation sequencing and machine learning for full tumor exome analysis.

Shatalov PA et al.

Oncotarget, 2024

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

FLT3 Mutated Acute Myeloid Leukemia after CD19 CAR-t Cells.

Galli E et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2024

Desmoplastic Small Round Cell Tumors: Clinical Presentation, Molecular Characterization, and Therapeutic Approach of Seven Patients.

Gaidzik VI et al.

Sarcoma, 2024

The use of therapeutic drug monitoring to highlight an over-looked drug-drug interaction leading to imatinib treatment failure.

Gagno S et al.

Daru : Journal of Faculty of Pharmacy, Tehran University of Medical Sciences, 2023

Ewing Sarcoma Developed at the Site of Previous Mast Cell Proliferation.

Ranchor R et al.

Cureus, 2023

Subclones with variants of uncertain clinical significance might contribute to ineffective hemopoiesis and leukemia predisposition.

Giudice V et al.

European Journal of Haematology, 2023

Diffuse cutaneous mastocytosis in a girl with M541L polymorphism in KIT gene: Response to treatment with imatinib.

Giacaman A et al.

Anales De Pediatria, 2023

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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."