|
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 |
|
rs1057519710
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Imatinib delays GIST xenograft growth despite the presence of the D816H resistance mutation.
|
23480638 |
2013 |
|
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 |
|
rs1057519711
|
|
|
0.010 |
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 |
|
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 |
|
rs121913506
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Imatinib delays GIST xenograft growth despite the presence of the D816H resistance mutation.
|
23480638 |
2013 |
|
rs121913507
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A KIT mutation was identified in six cases (67%), including three with the D816V mutation typical of adult-onset disease, and another three with an internal tandem duplication (p.A502_Y503dup) in exon 9, previously described in gastrointestinal stromal tumour.
|
24128084 |
2014 |
|
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 |
|
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 |
|
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 |
|
rs121913513
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Activate and resist: L576P-KIT in GIST.
|
19723893 |
2009 |
|
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 |
|
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 |