Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.W557R
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KIT

NM_000222.3:p.W557R

Associated Papers

Dideoxy Sequencing Enhances Detection of KIT Mutations in Gastrointestinal Stromal Tumors Initially Evaluated by Next-Generation Sequencing Hotspot Panels.

Robinson L et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Sporadic Multiple Gastrointestinal Stromal Tumors With Distinct KIT and PDGFRA Mutations in Two Separate Tumors: A Case Report and Literature Review.

Akincioglu E et al.

International Journal of Surgical Pathology, 2025

Computational prediction of human genetic variants in the mouse genome.

Dong K et al.

Nature Biotechnology, 2025

Performance and clinical utility of two targeted multigene panels for GIST molecular characterization.

Nannini M et al.

Scientific Reports, 2025

41407759 (PubMed )
Supplement: 41598_2025_30548_MOESM1_ESM.pdf

Oral Melanocytic Neoplasms: A Narrative Review.

Maldonado-Mendoza J

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 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

Mutational landscape of gastrointestinal stromal tumors using next-generation sequencing of a 73-gene panel.

Wang C et al.

World Journal of Surgical Oncology, 2025

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

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

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

High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics.

Yildiz S et al.

Molecular Biology Reports, 2025

40627234 (PubMed )
Supplement: 11033_2025_10750_MOESM4_ESM.xlsx › Supplementary_Table_4-6-7

Genomic landscape and molecularly informed therapy in thymic carcinoma and other advanced thymic epithelial tumors.

Möhrmann L et al.

Med (new York, N.y.), 2025

Effects of first‑line therapies in patients with locally advanced gastrointestinal stromal tumors with KIT and PDGFRα gene mutations: A single‑center study.

Su WC et al.

Oncology Letters, 2025

Concurrent Coprimary KIT Exon 17 and BRAF Mutations in a Small Intestinal GI Stromal Tumor-A Case Report.

Ishfaq H et al.

Journal of Gastrointestinal Cancer, 2025

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

Li J et al.

The Oncologist, 2025

40377443 (PubMed )
Supplement: oyaf110_suppl_supplementary_tables_s1-s2.pdf

Selective internal radiation with Y-90 resin microspheres (SIRT) for liver metastases of gastro-intestinal stromal tumors (GIST) resistant to tyrosine kinase inhibitor (TKI) therapy.

Hohenberger P et al.

British Journal of Cancer, 2025

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

A Cross-Sectional Study of Variant Interpretation and Reporting of NGS Data Using Tertiary Analysis Software: Navify® Mutation Profiler.

Pepe F et al.

Oncology and Therapy, 2025

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

Jutten E et al.

Molecular Diagnosis & Therapy, 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

First Report of Pembrolizumab Activity in KIT-Mutated Thymic Carcinoma.

De Pas TM et al.

Current Oncology (toronto, Ont.), 2025

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

Genomic and transcriptomic landscape of human gastrointestinal stromal tumors.

Xie F et al.

Nature Communications, 2024

39489749 (PubMed )
Supplement: 41467_2024_53821_MOESM4_ESM.zip › Supplementary_Files_1-14_20240914_LSZ_final › Supplementary_Files_1-14_20240914_Final › Supplementary_Data_1.xlsx › sheet1

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1B_Cases_composite_mutations

The genetic evolution of acral melanoma.

Wang M et al.

Nature Communications, 2024

Mutation analysis in individual circulating tumor cells depicts intratumor heterogeneity in melanoma.

Sementsov M et al.

Embo Molecular Medicine, 2024

Pilot Study by Liquid Biopsy in Gastrointestinal Stromal Tumors: Analysis of PDGFRA D842V Mutation and Hypermethylation of SEPT9 Presence by Digital Droplet PCR.

Olivera-Salazar R et al.

International Journal of Molecular Sciences, 2024

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

Huang X et al.

Histopathology, 2024

Comprehensive molecular findings in primary malignant melanoma of the esophagus: A multicenter study.

Deng L et al.

Pigment Cell & Melanoma Research, 2024

Molecular Analysis of Murine KitK641E Melanoma Progression.

Everdell E et al.

Jid Innovations : Skin Science From Molecules to Population Health, 2024

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

KIT exon 17 mutations are predictive of inferior outcome in pediatric acute myeloid leukemia with RUNX1::RUNX1T1.

Srinivasan S et al.

Pediatric Blood & Cancer, 2024

Molecular and Functional Key Features and Oncogenic Drivers in Thymic Carcinomas.

Barachini S et al.

Cancers, 2023

Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.

Giger OT et al.

Journal of Clinical Pathology, 2023

36198483 (PubMed )
Supplement: jcp-2022-208462supp002.pdf

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

The genetic evolution of acral melanoma.

Wang M et al.

Biorxiv : the Preprint Server for Biology, 2023

Identification of novel pathogenic roles of BLZF1/ATF6 in tumorigenesis of gastrointestinal stromal tumor showing Golgi-localized mutant KIT.

Kwon Y et al.

Cell Death and Differentiation, 2023

37704840 (PubMed )
Supplement: 41418_2023_1220_MOESM1_ESM.pdf

The Mutational, Prognostic, and Therapeutic Landscape of Neuroendocrine Neoplasms.

Liu M et al.

The Oncologist, 2023

37086484 (PubMed )
Supplement: oyad093_suppl_supplementary_table_1.xlsx › Genetic_Variations

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

Unraveling the Mystery: Next Generation Sequencing Sheds Light on Neuroblastoma Pathogenesis and Targeted Therapies.

Aktas T et al.

Frontiers in Bioscience (landmark Edition), 2023

Familial Gastrointestinal Stromal Tumor Associated with Zebra-like Pigmentation.

Hayashi T et al.

Biomedicines, 2023

Whole-genome and Epigenomic Landscapes of Malignant Gastrointestinal Stromal Tumors Harboring KIT Exon 11 557-558 Deletion Mutations.

Ohshima K et al.

Cancer Research Communications, 2023

Combining Three Tyrosine Kinase Inhibitors: Drug Monitoring Is the Key.

Thomas QD et al.

International Journal of Molecular Sciences, 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."