|
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
BEFREE |
The present case is the first proven case of multiple GIST with a c-kit germline mutation in Korea and is distinguishable from other reported germ-line c-kit mutations because the same 1676 T --> C missense mutation occurs in the normal allele as well as the affected allele, although the significance of the identical mutations remains to be investigated.
|
16185297 |
2005 |
|
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
BEFREE |
Its superior selectivity would make it a good pharmacological tool for further dissection of KIT V559D mediated pathology in the GISTs.
|
29340041 |
2017 |
|
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
BEFREE |
According to Western blot analysis, in imatinib-resistant GIST with both KIT V559D and BRAF V600E mutations, the inhibition of KIT V559D by imatinib caused a strong decrease of AKT phosphorylation, while ERK1/2 phosphorylation was not affected.
|
25182956 |
2015 |
|
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
BEFREE |
Further comparison of localized GISTs in the MolecGIST cohort with advanced GISTs from previous clinical trials showed that the mutations of PDGFRA exon18 (D842V and others) as well as KIT exon11 substitutions (W557R and V559D) were more likely to be seen in patients with localized GISTs (odds ratio 7.9, 3.1, 2.7 and 2.5, respectively), while KIT exon 9 502_503dup and KIT exon 11 557_559del were more frequent in metastatic GISTs (odds ratio of 0.3 and 0.5, respectively).
|
21953054 |
2012 |
|
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
BEFREE |
Ligand-independent autophosphorylation was observed in the mutant KIT with Val559Ile as well as that with Val559Asp, as found in GISTs.
|
17259998 |
2007 |
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
CHMFL-KIT-031 showed potent inhibitory efficacy for KIT V559D mediated signaling pathways in cell and anti-tumor activity <i>in vivo</i> (Tumor Growth Inhibition: 68.5%).
|
29340041 |
2017 |
|
Gastrointestinal Stromal Tumors
|
|
0.850 |
CausalMutation
|
CLINVAR |
|
|
|
|
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
CLINVAR |
Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells.
|
23582185 |
2013 |
|
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
|
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
CLINVAR |
Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.
|
21689725 |
2011 |
|
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
|
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
CLINVAR |
Ligand-independent autophosphorylation was observed in the mutant KIT with Val559Ile as well as that with Val559Asp, as found in GISTs.
|
17259998 |
2007 |
|
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
|
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412.
|
15790786 |
2005 |
|
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib.
|
18936790 |
2008 |
|
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification.
|
21690468 |
2011 |
|
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
The GIST of targeted therapy for malignant melanoma.
|
24531699 |
2014 |
|
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition.
|
17372901 |
2007 |
|
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
KIT as a therapeutic target in metastatic melanoma.
|
21642685 |
2011 |
|
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Inhibition of drug-resistant mutants of ABL, KIT, and EGF receptor kinases.
|
16046538 |
2005 |
|
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene.
|
19812602 |
2010 |
|
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours.
|
11276010 |
2001 |
|
Thymoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors.
|
12960119 |
2003 |