rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
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 GIST s.
29340041
2017
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
0.850
GeneticVariation
UNIPROT
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
25394175
2015
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
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
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
G
0.850
GeneticVariation
CLINVAR
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
25157968
2014
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
0.850
GeneticVariation
UNIPROT
Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.
23852704
2014
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
A
0.850
GeneticVariation
CLINVAR
Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells.
23582185
2013
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
0.850
GeneticVariation
UNIPROT
The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation.
22685257
2012
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
0.850
GeneticVariation
BEFREE
Further comparison of localized GIST s in the MolecGIST cohort with advanced GIST s 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 GIST s (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 GIST s (odds ratio of 0.3 and 0.5, respectively).
21953054
2012
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
A
0.850
GeneticVariation
CLINVAR
Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.
21689725
2011
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
A
0.850
GeneticVariation
CLINVAR
Ligand-independent autophosphorylation was observed in the mutant KIT with Val559Ile as well as that with Val559Asp , as found in GIST s.
17259998
2007
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
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 GIST s.
17259998
2007
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
G
0.850
GeneticVariation
CLINVAR
An update on molecular genetics of gastrointestinal stromal tumours.
16731599
2006
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
C
0.850
GeneticVariation
CLINVAR
An update on molecular genetics of gastrointestinal stromal tumours.
16731599
2006
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
A
0.850
GeneticVariation
CLINVAR
An update on molecular genetics of gastrointestinal stromal tumours.
16731599
2006
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
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
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
0.850
GeneticVariation
UNIPROT
A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors.
15824741
2005
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
0.850
GeneticVariation
UNIPROT
Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa.
11505412
2001
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
0.850
GeneticVariation
UNIPROT
Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.
9697690
1998
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
0.850
GeneticVariation
UNIPROT
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.
9438854
1998
rs121913517
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
A
0.850
CausalMutation
CLINVAR
rs121913512
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
G
0.760
GeneticVariation
CLINVAR
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
25157968
2014
rs121913512
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
0.760
GeneticVariation
BEFREE
Imatinib was efficient in GIST s with p.K642E mutation with a disease control rate superior to 90% whatever the sporadic or inherited origin of the tumour.
23648119
2013
rs121913512
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
0.760
GeneticVariation
BEFREE
Here we have investigated Eng expression in the Kit(K641E ) mouse GIST model, in human GIST and in the Ba/F3 cell model.
21435173
2012
rs121913512
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
0.760
GeneticVariation
BEFREE
Here we characterized Ntsr1 mRNA and protein expression in the murine Kit(K641E ) GIST model and in tissue microarrays of human GIST .
21364741
2011
rs121913512
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
0.760
GeneticVariation
BEFREE
Abnormal elevated PTEN expression in the mouse antrum of a model of GIST Kit(K641E /K641E ).
21757001
2011