Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.N822H
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KIT

NM_000222.3:p.N822H

Associated Papers

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

Sun X et al.

British Journal of Haematology, 2025

Longitudinal ultra-sensitive mutation burden sequencing for precise minimal residual disease assessment in AML.

Wu Y et al.

Nature Communications, 2024

39543210 (PubMed )
Supplement: 41467_2024_54254_MOESM4_ESM.xlsx › No.16

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 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

Broad spectrum of regorafenib activity on mutant KIT and absence of clonal selection in gastrointestinal stromal tumor (GIST): correlative analysis from the GRID trial.

Jeffers M et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2022

35050442 (PubMed )
Supplement: 10120_2021_1274_MOESM1_ESM.docx

Phase II Study of Ponatinib in Advanced Gastrointestinal Stromal Tumors: Efficacy, Safety, and Impact of Liquid Biopsy and Other Biomarkers.

George S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

35091442 (PubMed )
Supplement: ccr-21-2037_supplementary_data_supp0.pdf

BRAF, C-KIT, and NRAS mutations correlated with different clinicopathological features: an analysis of 691 melanoma patients from a single center.

Ren M et al.

Annals of Translational Medicine, 2022

Mutational spectrum and precision oncology for biliary tract carcinoma.

Lin J et al.

Theranostics, 2021

33754015 (PubMed )
Supplement: thnov11p4585s1.pdf

Exon 11 homozygous mutations and intron 10/exon 11 junction deletions in the KIT gene are associated with poor prognosis of patients with gastrointestinal stromal tumors.

Shen YY et al.

Cancer Medicine, 2020

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

Comutation and exclusion analysis in human tumors: A tool for cancer biology studies and for rational selection of multitargeted therapeutic approaches.

Ochoa S et al.

Human Mutation, 2019

Receptor Tyrosine Kinase-Targeted Cancer Therapy.

Yamaoka T et al.

International Journal of Molecular Sciences, 2018

Molecular characterization and pathogenesis of gastrointestinal stromal tumor.

Niinuma T et al.

Translational Gastroenterology and Hepatology, 2018

Efficacy and safety of nilotinib in patients with KIT-mutated metastatic or inoperable melanoma: final results from the global, single-arm, phase II TEAM trial.

Guo J et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2017

A historical overview of protein kinases and their targeted small molecule inhibitors.

Roskoski R

Pharmacological Research, 2015

Inactivity of imatinib in gastrointestinal stromal tumors (GISTs) harboring a KIT activation-loop domain mutation (exon 17 mutation pN822K).

Spitaleri G et al.

Oncotargets and Therapy, 2015

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Prognostic value of KIT/PDGFRA mutations in gastrointestinal stromal tumours (GIST): Polish Clinical GIST Registry experience.

Wozniak A et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2012

Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Pommier SJ et al.

Annals of Surgical Oncology, 2012

21748247 (PubMed )
Supplement: 10434_2011_1892_MOESM2_ESM.pdf

Allosteric communication across the native and mutated KIT receptor tyrosine kinase.

Laine E et al.

Plos Computational Biology, 2012

Gastrointestinal stromal tumours: origin and molecular oncology.

Corless CL et al.

Nature Reviews. Cancer, 2011

Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.

Wasag B et al.

Experimental Hematology, 2011

V559A and N822I double KIT mutant melanoma with predictable response to imatinib?

McDonnell K et al.

Pigment Cell & Melanoma Research, 2011

The energy landscape analysis of cancer mutations in protein kinases.

Dixit A et al.

Plos One, 2011

21998754 (PubMed )
Supplement: pone.0026071.s009.doc

Correlation between KIT expression and KIT mutation in melanoma: a study of 173 cases with emphasis on the acral-lentiginous/mucosal type.

Torres-Cabala CA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2009

Disruption of the EGFR E884-R958 ion pair conserved in the human kinome differentially alters signaling and inhibitor sensitivity.

Tang Z et al.

Oncogene, 2009

Gastrointestinal stromal tumor: a bridge between bench and bedside.

Nishida T et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2009

Sarcomas: genetics, signalling, and cellular origins. Part 2: TET-independent fusion proteins and receptor tyrosine kinase mutations.

Suvà ML et al.

The Journal of Pathology, 2007

Clonal evolution of resistance to imatinib in patients with metastatic gastrointestinal stromal tumors.

Desai J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2007

KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours.

Debiec-Rychter M et al.

European Journal of Cancer (oxford, England : 1990), 2006

[c-kit and PDGFRA mutations in 60 cases of gastrointestinal stromal tumors (GISTs)].

He HY et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2005

A missense mutation in KIT kinase domain 1 correlates with imatinib resistance in gastrointestinal stromal tumors.

Chen LL et al.

Cancer Research, 2004

Lack of Response to Imatinib in Melanoma Carrying Rare KIT Mutation p.T632I.

Orlova KV et al.

Case Reports in Oncology, 0

31043947 (PubMed )
Supplement: cro-0012-0109-s01.pdf
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