rs121913513
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Activate and resist: L576P-KIT in GIST.
|
19723893 |
2009 |
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 |
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 |
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 |
rs121913506
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Imatinib delays GIST xenograft growth despite the presence of the D816H resistance mutation.
|
23480638 |
2013 |
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 |
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 |
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 |
In a previous study, a KIT germline Asp820Tyr mutation was detected in a Japanese kindred in which 6 individuals had GIST.
|
14699510 |
2004 |
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 |
rs121913682
|
|
|
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 |
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 |
rs17084733
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified the <i>KIT</i> variant rs17084733 as a possible novel genetic biomarker for risk of developing <i>KIT</i>-WT GIST.
|
30983504 |
2019 |
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 |
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 |