Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.Q556_K558del0
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KIT

NM_000222.3:p.Q556_K558del0

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

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

Nannini M et al.

Scientific Reports, 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

PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.

Kang M et al.

Journal of Veterinary Science, 2025

40765230 (PubMed )
Supplement: jvs-26-e48-s001.xls › Supplementary_Table_1

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

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

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.

López Rivera JJ et al.

Journal of Personalized Medicine, 2024

39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2

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

Bioinformatic analysis of KIT juxtamembrane domain mutations in Syrian GIST patients: jigsaw puzzle completed.

Pharaon N et al.

Journal of the Egyptian National Cancer Institute, 2023

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

36125633 (PubMed )
Supplement: CAM4-12-4042-s001.xlsx › Sheet1

Small Gastric Stromal Tumors: An Underestimated Risk.

Guo J et al.

Cancers, 2022

36497489 (PubMed )
Supplement: cancers-14-06008-s001.zip › cancers-1972428-supplementary.pdf

Correlation of treatment outcome in sanger/RT‑qPCR KIT/PDGFRA wild‑type metastatic gastrointestinal stromal tumors with next‑generation sequencing results: A single‑center report.

Unk M et al.

Oncology Reports, 2022

FGFR2::TACC2 fusion as a novel KIT-independent mechanism of targeted therapy failure in a multidrug-resistant gastrointestinal stromal tumor.

Dermawan JK et al.

Genes, Chromosomes & Cancer, 2022

The GIST of Advances in Treatment of Advanced Gastrointestinal Stromal Tumor.

Schaefer IM et al.

American Society of Clinical Oncology Educational Book. American Society of Clinical Oncology. Annual Meeting, 2022

Circulating Tumor DNA Mutations in Progressive Gastrointestinal Stromal Tumors Identify Biomarkers of Treatment Resistance and Uncover Potential Therapeutic Strategies.

Ko TK et al.

Frontiers in Oncology, 2022

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

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

KIT and PDGFRa mutational patterns in Sardinian patients with gastrointestinal stromal tumors.

Palomba G et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2021

32091431 (PubMed )
Supplement: ejcp-30-53-s001.pdf

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Li J et al.

Journal of Translational Medicine, 2020

32738923 (PubMed )
Supplement: 12967_2020_2449_MOESM1_ESM.xlsx › Supplementary_Table_S2

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_Table_S2.xlsx › Supplementary_Table_2

Mutational spectrum and classification of novel mutations in patients with metastatic gastrointestinal stromal tumours.

Bombac A et al.

International Journal of Oncology, 2020

32236636 (PubMed )
Supplement: Supplementary_Data.pdf

Justification of direct Sanger sequencing application for detection of KIT and PDGFRα gene mutations in formalin-fixed, paraffin-embedded samples from gastrointestinal stromal tumours.

Kiwerska K et al.

Journal of Clinical Pathology, 2020

Analysis of C-Kit Exon 9, Exon 11 and BRAFV600E Mutations Using Sangers Sequencing in Gastrointestinal Stromal Tumours.

Madhala D et al.

Cureus, 2020

Somatic gene mutation signatures predict cancer type and prognosis in multiple cancers with pan-cancer 1000 gene panel.

Wang HL et al.

Cancer Letters, 2020

Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Wang S et al.

Frontiers in Oncology, 2020

32373528 (PubMed )
Supplement: Table_6.xlsx › Sheet1

Driver gene alterations and activated signaling pathways toward malignant progression of gastrointestinal stromal tumors.

Ohshima K et al.

Cancer Science, 2019

31553483 (PubMed )
Supplement: CAS-110-3821-s008.xlsx › Table_S2

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

Oncologist uptake of comprehensive genomic profile guided targeted therapy.

Nesline MK et al.

Oncotarget, 2019

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

The assessment of minimal residual disease versus that of somatic mutations for predicting the outcome of acute myeloid leukemia patients.

Salehzadeh S et al.

Cancer Cell International, 2019

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

Clark TA et al.

The Journal of Molecular Diagnostics : Jmd, 2018

29936259 (PubMed )
Supplement: mmc12.xlsx › Table_S12

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

A single digital droplet PCR assay to detect multiple KIT exon 11 mutations in tumor and plasma from patients with gastrointestinal stromal tumors.

Boonstra PA et al.

Oncotarget, 2018

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Comprehensive molecular screening by next generation sequencing reveals a distinctive mutational profile of KIT/PDGFRA genes and novel genomic alterations: results from a 20-year cohort of patients with GIST from north-western Greece.

Mavroeidis L et al.

Esmo Open, 2018

Integrated digital error suppression for improved detection of circulating tumor DNA.

Newman AM et al.

Nature Biotechnology, 2016

27018799 (PubMed )
Supplement: NIHMS764326-supplement-6.xlsx › SuppTable4_hotspot_variants

Analysis of c-KIT exon 11 mutations in canine gastrointestinal stromal tumours.

Takanosu M et al.

Veterinary Journal (london, England : 1997), 2016

Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Lee JY et al.

Oncotarget, 2015

26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1

Molecular characterization of metastatic exon 11 mutant gastrointestinal stromal tumors (GIST) beyond KIT/PDGFRα genotype evaluated by next generation sequencing (NGS).

Saponara M et al.

Oncotarget, 2015

Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Park K et al.

Oncotarget, 2015

26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1

Copy-neutral loss of heterozygosity and chromosome gains and losses are frequent in gastrointestinal stromal tumors.

Lourenço N et al.

Molecular Cancer, 2014

Frequent KIT mutations in human gastrointestinal stromal tumors.

Xu Z et al.

Scientific Reports, 2014

25080996 (PubMed )
Supplement: srep05907-s1.pdf

Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad.

Haller F et al.

Endocrine-related Cancer, 2014

High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Kim S et al.

Plos One, 2014

25372287 (PubMed )
Supplement: pone.0111693.s003.xls › ion_ampliseq_cancer_panel_mutat

Imatinib-associated tumour response in a dog with a non-resectable gastrointestinal stromal tumour harbouring a c-kit exon 11 deletion mutation.

Kobayashi M et al.

Veterinary Journal (london, England : 1997), 2013

Duodenal GIST: a single center experience.

Beham A et al.

International Journal of Colorectal Disease, 2013

Gene expression patterns of hemizygous and heterozygous KIT mutations suggest distinct oncogenic pathways: a study in NIH3T3 cell lines and GIST samples.

Bachet JB et al.

Plos One, 2013

A genome-wide single-nucleotide polymorphism-array can improve the prognostic stratification of the core binding factor acute myeloid leukemia.

Huh J et al.

American Journal of Hematology, 2012

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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."