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 |
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 |
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
|
|
|
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
|
|
|
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 |
rs121913512
|
|
|
0.760 |
GeneticVariation |
BEFREE |
A mouse model harbouring a germline Kit K641E mutant was created to model familial GIST.
|
19453770 |
2009 |
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 |
Imatinib was efficient in GISTs with p.K642E mutation with a disease control rate superior to 90% whatever the sporadic or inherited origin of the tumour.
|
23648119 |
2013 |
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 |
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 |
rs121913516
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Compound 24 displays good antiproliferative effects against c-KIT T670I mutant-driven GIST cell lines (GIST-T1/T670I and GIST-5R) and also exhibits suitable in vivo pharmacokinetic profiles as well as dose-dependent antitumor efficacy.
|
31046271 |
2019 |
rs121913516
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Compound 35 displayed strong antiproliferative effect against GISTs cancer cell lines GIST-T1 (cKIT wt, GI50 = 4 nM) and GIST-5R (cKIT T670I, GI50 = 26 nM).
|
27545040 |
2016 |
rs121913516
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Herein, by introducing adaptive elements into the inhibitor core structure, we undertake the structure-based development of type II hybrid inhibitors to overcome gatekeeper drug-resistant mutations in cSrc-T338M, as well as clinically relevant tyrosine kinase KIT-T670I and Abl-T315I variants, as essential targets in gastrointestinal stromal tumors (GISTs) and chronic myelogenous leukemia (CML).
|
23773153 |
2013 |
rs121913516
|
|
|
0.750 |
GeneticVariation |
BEFREE |
In addition, it could inhibit imatinib resistant cKIT T670I and V654A mutants <i>in vitro</i> and <i>in vivo</i> GIST preclinical models.
|
31205508 |
2019 |
rs121913516
|
|
|
0.750 |
GeneticVariation |
BEFREE |
These were PDX models harboring primary and secondary <i>KIT</i> and additional mutations; <i>KIT</i> exon 11 (p.Y570_L576del), <i>KIT</i> exon 17 (p.D816E), and <i>PTEN</i> (p.T321fs) mutations in GIST-RX1 from a patient who was unresponsive to imatinib, sunitinib, and sorafenib, and <i>KIT</i> exon 11 (p.K550_splice) and <i>KIT</i> exon 14 (p.T670I) mutations in GIST-RX2 and <i>KIT</i> exon 9 (p.502_503insYA) and <i>KIT</i> exon 17 (p.D820E) mutations in GIST-RX4 from patients with imatinib and imatinib/sunitinib resistance, respectively.
|
29100343 |
2017 |
rs121913521
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Although targeted therapy involving tyrosine kinase inhibitors (TKIs) such as imatinib mesylate is highly effective for gastrointestinal stromal tumor carrying V560G c-kit mutation, it does not show much potential for targeting wild-type KIT (WT-KIT).
|
26428235 |
2016 |
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 |
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 |
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 |
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 |
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 |
rs121913235
|
|
|
0.730 |
GeneticVariation |
BEFREE |
This paper describes a 52-year old patient with a de novo germline p.Trp557Arg mutation with multiple GISTs throughout the gastrointestinal tract and cutaneous hyperpigmentation.
|
28710566 |
2018 |
rs121913513
|
|
|
0.730 |
GeneticVariation |
BEFREE |
A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro).
|
27771813 |
2017 |
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 |