Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.D579del1
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KIT

NM_000222.3:p.D579del1

Associated Papers

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

Quintana Castillo JJA et al.

Journal of Cutaneous Pathology, 2026

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

Ancestry and somatic profile predict acral melanoma origin and prognosis.

Basurto-Lozada P et al.

Medrxiv : the Preprint Server for Health Sciences, 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

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

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

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

Jutten E et al.

Molecular Diagnosis & Therapy, 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

Different efficacy of tyrosine kinase inhibitors by KIT and PGFRA mutations identified in circulating tumor DNA for the treatment of refractory gastrointestinal stromal tumors.

Hashimoto T et al.

Bjc Reports, 2024

Clinical Practice Recommendations for the Use of Next-Generation Sequencing in Patients with Solid Cancer: A Joint Report from KSMO and KSP.

Kim M et al.

Cancer Research and Treatment, 2024

Clinical practice recommendations for the use of next-generation sequencing in patients with solid cancer: a joint report from KSMO and KSP.

Kim M et al.

Journal of Pathology and Translational 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

The immune response-related genomic alterations in patients with malignant melanoma.

Li L et al.

Medicine, 2024

38669390 (PubMed )
Supplement: medi-103-e37966-s001.xlsx › Sheet1

Imatinib in c-KIT-mutated metastatic solid tumors: A multicenter trial of Korean Cancer Study Group (UN18-05 Trial).

Kim HR et al.

Journal of Cancer Research and Therapeutics, 2024

Nilotinib in KIT-driven advanced melanoma: Results from the phase II single-arm NICAM trial.

Larkin J et al.

Cell Reports. Medicine, 2024

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

Barachini S et al.

Cancers, 2023

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

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

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

Surgical Management of Germline Gastrointestinal Stromal Tumor.

Kwak HV et al.

Annals of Surgical Oncology, 2023

Extraskeletal Myxoid Chondrosarcomas: The Uncommon Clinicopathologic Manifestations and Significance of TAF15::NR4A3 Fusion.

Huang SC et al.

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

Clinicopathological and mutational characteristics of primary double mutant gastrointestinal stromal tumor: a single center study with review of the literature.

Yan J et al.

Bmc Cancer, 2023

A Comprehensive Analysis of Cutaneous Melanoma Patients in Greece Based on Multi-Omic Data.

Kontogianni G et al.

Cancers, 2023

36765773 (PubMed )
Supplement: cancers-15-00815-s001.zip › Tables_S1-S7.xlsx › Supplementary_Table_1

Molecular and Functional Heterogeneity of Primary Pancreatic Neuroendocrine Tumors and Metastases.

Guo Y et al.

Neuroendocrinology, 2023

37232011 (PubMed )
Supplement: Supplementary_material-Suppl.7-s7.xls › Table_S6

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_6.xlsx › Comprehensive_panel

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

A literature review and database of how the primary KIT/PDGFRA variant of a gastrointestinal stromal tumour predicts for sensitivity to imatinib.

Wong NACS et al.

Cancer Genetics, 2022

KIT-Associated Familial GIST Syndrome: Response to Tyrosine Kinase Inhibitors and Implications for Risk Management.

Brodey A et al.

The Oncologist, 2022

Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants in KIT, ERBB2, KRAS, and TP53 in 30% of Thymic Carcinomas.

Szpechcinski A et al.

Cancers, 2022

35884448 (PubMed )
Supplement: cancers-14-03388-s001.zip › Szpechcinski_Szolkowska_-_NGS_analysis_of_53_thymic_epithelial_tumors_-_Table_S3.pdf

Results of screening in early and advanced thoracic malignancies in the EORTC pan-European SPECTAlung platform.

Morfouace M et al.

Scientific Reports, 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

Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

Chevrier S et al.

International Journal of Molecular Medicine, 2022

35244186 (PubMed )
Supplement: Supplementary_Data2.xlsx › Feuil1

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

CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.

Gutiontov SI et al.

Scientific Reports, 2021

34625620 (PubMed )
Supplement: 41598_2021_99524_MOESM2_ESM.xlsx › Mutations

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

Sustained response to imatinib in patient with extraskeletal myxoid chondrosarcoma and novel KIT mutation.

Jennings B et al.

Bmj Case Reports, 2021

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

Targeting rare and non-canonical driver variants in NSCLC - An uncharted clinical field.

Volckmar AL et al.

Lung Cancer (amsterdam, Netherlands), 2021

Gene Expression Landscape of SDH-Deficient Gastrointestinal Stromal Tumors.

Indio V et al.

Journal of Clinical Medicine, 2021

33806389 (PubMed )
Supplement: jcm-10-01057-s001.zip › Supplementary_Tables.xlsx › Table_S1

Mutational characteristics of gastrointestinal stromal tumors: A single-center analysis of 302 patients.

Liang L et al.

Oncology Letters, 2021

Update on Molecular Genetics of Gastrointestinal Stromal Tumors.

Brčić I et al.

Diagnostics (basel, Switzerland), 2021

A Novel Kindred with Familial Gastrointestinal Stromal Tumors Caused by a Rare KIT Germline Mutation (N655K): Clinico-Pathological Presentation and TKI Sensitivity.

Fornasarig M et al.

Journal of Personalized Medicine, 2020

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

Mutation profile of primary subungual melanomas in Caucasians.

Borkowska A et al.

Oncotarget, 2020

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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."