Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.N655K
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KIT

NM_000222.3:p.N655K

Associated Papers

Germ cell immunoprofile and KIT exon 17 mutation guide rectification of seminoma misclassified as epithelioid gastrointestinal stromal tumor: A case report.

Zhang X et al.

Biomedical Reports, 2026

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

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

Uncovering the molecular mechanisms of amelanotic/hypopigmented primary cutaneous melanoma.

Sturm RA et al.

The British Journal of Dermatology, 2024

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

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

Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib.

Ingley KM et al.

Npj Genomic Medicine, 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 clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.

Kubota Y et al.

Nature Communications, 2024

38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2

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

Differences in the Clinical and Molecular Profiles of Subungual Melanoma and Acral Melanoma in Asian Patients.

Ahn SY et al.

Cancers, 2023

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Villani A et al.

Nature Cancer, 2023

36585449 (PubMed )
Supplement: 43018_2022_474_MOESM10_ESM.xlsx › Table_S5_-_Category_C_variants

Somatic mutation detection and KRAS amplification in testicular germ cell tumors.

Cabral ERM et al.

Frontiers in Oncology, 2023

37007070 (PubMed )
Supplement: DataSheet_1.zip › Table_S2.XLSX › Planilha1

Rare Case of a Turner Syndrome Patient with Metastatic Dysgerminoma and No Y-Chromosomal Material with Pathogenic Variants Found in KIT and MTOR.

Balle CM et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2023

Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma.

Li J et al.

Frontiers in Genetics, 2023

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

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

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

The novel KIT exon 11 germline mutation K558N is associated with gastrointestinal stromal tumor, mastocytosis, and seminoma development.

Meir M et al.

Genes, Chromosomes & Cancer, 2021

Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma.

Ilcus C et al.

Journal of Personalized Medicine, 2021

Update on Molecular Genetics of Gastrointestinal Stromal Tumors.

Brčić I et al.

Diagnostics (basel, Switzerland), 2021

Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome.

Gawrychowska A et al.

Diagnostics (basel, Switzerland), 2020

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

Molecular exploration of paediatric intracranial germinomas from multi-ethnic Singapore.

Low SYY et al.

Bmc Neurology, 2020

Genomic landscape of platinum resistant and sensitive testicular cancers.

Loveday C et al.

Nature Communications, 2020

32366847 (PubMed )
Supplement: 41467_2020_15768_MOESM7_ESM.xlsx › Supplementary_Data_4

BRAF, KIT, and NRAS Mutations of Acral Melanoma in White Patients.

Dika E et al.

American Journal of Clinical Pathology, 2020

Functional Properties of KIT Mutations Are Associated with Differential Clinical Outcomes and Response to Targeted Therapeutics in CBF Acute Myeloid Leukemia.

Tarlock K et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

ATP-Competitive Inhibitors Midostaurin and Avapritinib Have Distinct Resistance Profiles in Exon 17-Mutant KIT.

Apsel Winger B et al.

Cancer Research, 2019

Clinical mutational profiling and categorization of BRAF mutations in melanomas using next generation sequencing.

Lokhandwala PM et al.

Bmc Cancer, 2019

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 3

STAT3 Mediates Nilotinib Response in KIT-Altered Melanoma: A Phase II Multicenter Trial of the French Skin Cancer Network.

Delyon J et al.

The Journal of Investigative Dermatology, 2018

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Hamblin A et al.

Plos Medicine, 2017

28196074 (PubMed )
Supplement: pmed.1002230.s004.xlsx › Melanoma

A Rare Case of Embryonal Carcinoma in a Patient with Turner Syndrome without Y Chromosomal Material but Mutations in KIT, AKT1, and ZNF358 Demonstrated Using Exome Sequencing.

Gravholt CH et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017

Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.

Marks LJ et al.

Frontiers in Pediatrics, 2017

29312904 (PubMed )
Supplement: Table_2.xlsx › Table_S2

Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.

Oberg JA et al.

Genome Medicine, 2016

Recurrent neomorphic mutations of MTOR in central nervous system and testicular germ cell tumors may be targeted for therapy.

Ichimura K et al.

Acta Neuropathologica, 2016

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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."