rs121913521
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The single missense mutation (Val560Asp) is very similar to the only other missense mutation reported in GISTs (Val599Asp).
|
10086344 |
1999 |
rs1057519710
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In a previous study, a KIT germline Asp820Tyr mutation was detected in a Japanese kindred in which 6 individuals had GIST.
|
14699510 |
2004 |
rs121913235
|
|
|
0.730 |
GeneticVariation |
BEFREE |
This finding was validated in four separate tumors, two gastric and two intestinal, from a patient with familial GIST with a germ-line KIT W557R substitution.
|
15161681 |
2004 |
rs121913521
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Molecular study revealed a mutation at the juxtamembrane domain of exon 12 in PDGFRA gene with GTC to GAC transition at codon 561 (V561D), as shown in the previous mutational studies on gastrointestinal stromal tumor (GIST).
|
15894928 |
2005 |
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 |
rs780708976
|
|
|
0.010 |
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 |
rs121913523
|
|
|
0.730 |
GeneticVariation |
BEFREE |
These studies suggest that SU11248 may be a useful therapeutic agent to treat gastrointestinal stromal tumors harboring the imatinib-resistant KIT-V654A or KIT-T670I mutations, but it has no effect on the activity of the PDGFRA-D842V mutant.
|
16638875 |
2006 |
rs121913507
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Whereas KIT juxtamembrane domain mutations seen in most patients with GIST are highly sensitive to imatinib, the kinase activation loop mutant D816V, frequently encountered in SM, hampers the binding ability of imatinib.
|
16912224 |
2007 |
rs121913682
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Whereas KIT juxtamembrane domain mutations seen in most patients with GIST are highly sensitive to imatinib, the kinase activation loop mutant D816V, frequently encountered in SM, hampers the binding ability of imatinib.
|
16912224 |
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 |
rs121913520
|
|
|
0.710 |
GeneticVariation |
BEFREE |
These results suggest that different mutations, even at the same codon, in juxtamembrane domain of the c-kit gene show different inhibitory effects of imatinib, and that patients with GISTs or mast cell neoplasms possessing this Val559Ile mutation are resistant to imatinib therapy.
|
17259998 |
2007 |
rs121913523
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We expressed c-KIT cDNA constructs encoding the V654A substitution alone and in combination with a typical activating exon 11 mutation characteristic of GIST, V560G, in factor-dependent FDC-P1 cells.
|
17363509 |
2007 |
rs121913521
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The patient was found to carry a germline PDGFRA mutation (V561D) in the heterozygote state; it has only been seen rarely before and only in the somatic state in sporadic GISTs.
|
17566086 |
2007 |
rs121913512
|
|
|
0.760 |
GeneticVariation |
BEFREE |
We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal.
|
17824795 |
2007 |
rs121913512
|
|
|
0.760 |
GeneticVariation |
BEFREE |
A mouse model harbouring a germline Kit K641E mutant was created to model familial GIST.
|
19453770 |
2009 |
rs121913513
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Activate and resist: L576P-KIT in GIST.
|
19723893 |
2009 |
rs1057519710
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways.
|
19847891 |
2010 |
rs121913512
|
|
|
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
|
|
|
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
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Abnormal elevated PTEN expression in the mouse antrum of a model of GIST Kit(K641E/K641E).
|
21757001 |
2011 |
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 |
rs121913235
|
|
|
0.730 |
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 |
rs121913506
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Imatinib delays GIST xenograft growth despite the presence of the D816H resistance mutation.
|
23480638 |
2013 |
rs1057519710
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Imatinib delays GIST xenograft growth despite the presence of the D816H resistance mutation.
|
23480638 |
2013 |
rs121913513
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Sequencing of DNA extracted from tumor tissue of one of his GISTs revealed the KIT mutation in exon 11 (c.1727T>C).
|
23598963 |
2013 |