rs121913517
|
|
|
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 |
rs121913517
|
|
|
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
|
|
|
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
|
|
G |
0.850 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
rs121913517
|
|
|
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
|
|
A |
0.850 |
GeneticVariation |
CLINVAR |
Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells.
|
23582185 |
2013 |
rs121913517
|
|
|
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
|
|
|
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 |
rs121913517
|
|
A |
0.850 |
GeneticVariation |
CLINVAR |
Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.
|
21689725 |
2011 |
rs121913517
|
|
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 GISTs.
|
17259998 |
2007 |
rs121913517
|
|
|
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 |
rs121913517
|
|
G |
0.850 |
GeneticVariation |
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
rs121913517
|
|
C |
0.850 |
GeneticVariation |
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
rs121913517
|
|
A |
0.850 |
GeneticVariation |
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
rs121913517
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.
|
9697690 |
1998 |
rs121913517
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.
|
9438854 |
1998 |
rs121913517
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
|
|
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We identified BRAF V600E</span> point mutation in 4 % of KIT/PDGFRA wild-type GIST patients.
|
31708372 |
2019 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Sorafenib-responsive GISTs were BRAF wild-type, whereas the sorafenib-resistant GIST carried a BRAF V600E mutation.
|
30179868 |
2019 |
rs121908585
|
|
|
0.800 |
GeneticVariation |
BEFREE |
D842V mutant GIST do not show any actionable recurrent molecular events of therapeutic significance, therefore this study supports the rationale of novel TKIs development that are currently being evaluated in clinical studies for the treatment of D842V mutant GIST.
|
29510530 |
2018 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
GISTs with the BRAF V600E mutation are relatively benign tumors with a distinctive molecular mechanism.
|
28034324 |
2017 |
rs121908585
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Patients with D842V-mutated GISTs can occasionally respond to imatinib.
|
28284172 |
2017 |