|
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 |
|
rs121908585
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Patients with D842V-mutated GISTs can occasionally respond to imatinib.
|
28284172 |
2017 |
|
rs121908585
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Tumor and normal DNA from a GIST case carrying the IM-resistant PDGFRA D842V mutation was analyzed by whole exome sequencing (WES) to identify additional potential targets for therapy.
|
28768491 |
2017 |
|
rs121908585
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Imatinib is active against non-D842V PDGFRA-mutant GISTs, whereas GISTs harboring the D842V mutation are primarily resistant to imatinib.
|
26130666 |
2016 |
|
rs121908585
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Imatinib is active against non-D842V PDGFRA-mutant GISTs, whereas GISTs harboring the D842V mutation are primarily resistant to imatinib.
|
26130666 |
2016 |
|
rs121908585
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Activated forms of the platelet derived growth factor receptor alpha (PDGFRα) have been described in various tumors, including FIP1L1-PDGFRα in patients with myeloproliferative diseases associated with hypereosinophilia and the PDGFRα(D842V) mutant in gastrointestinal stromal tumors and inflammatory fibroid polyps.
|
24618081 |
2014 |
|
rs121908585
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121908585
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We performed an association study between copy number alterations (CNAs) identified from array CGH and gene expression analyses results for four wild-type GISTs and an imatinib-resistant PDGFRA D842V mutant GIST, and compared the results to those obtained from 27 GISTs with KIT mutations.
|
24124608 |
2013 |
|
rs121908585
|
|
|
0.800 |
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 |
|
rs121908585
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Based in part on these results, a phase II clinical study of this agent to treat GIST with the PDGFRA D842V mutation has been initiated.
|
22745105 |
2012 |
|
rs121908585
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Outcome of patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors in the tyrosine kinase inhibitor era.
|
22718859 |
2012 |
|
rs121908585
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The choice also should be personalized on the basis of genotype: generally, PDGFRA D842V mutated and wild-type GIST are excluded.
|
22743760 |
2012 |
|
rs121908585
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Crenolanib is a potent inhibitor of imatinib-resistant PDGFRA kinases associated with GIST, including the PDGFRA D842V mutation found in approximately 5% of GISTs.
|
22745105 |
2012 |
|
rs121908585
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Treatment with dasatinib or the heat shock protein 90 inhibitor IPI-504 may provide a therapeutic alternative for GIST patients whose tumors carry the imatinib-resistant PDGFRA(D842V) mutant isoform.
|
18794084 |
2008 |
|
rs121908585
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
In this study, we compared the efficacy of second-line tyrosine kinase inhibitors such as dasatinib, sorafenib, and nilotinib against two GIST-related PDGFRA mutants, PDGFRA(D842V) and PDGFRA(DeltaDIM842-844).
|
18794084 |
2008 |
|
rs121908585
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular correlates of imatinib resistance in gastrointestinal stromal tumors.
|
16954519 |
2006 |
|
rs121908585
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Efficacy of the kinase inhibitor SU11248 against gastrointestinal stromal tumor mutants refractory to imatinib mesylate.
|
16638875 |
2006 |
|
rs121908585
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Including our cases, there are 289 reported PDGFRA-mutant GISTs, of which 181 (62.6%) had the imatinib-resistant substitution D842V.
|
15928335 |
2005 |
|
rs121908585
|
|
|
0.800 |
GeneticVariation |
BEFREE |
PDGFRA exon 18 mutations (total 86 cases) were common in epithelioid GISTs and most commonly represented a D842V point mutation; none of these was prognostically significant.
|
15613856 |
2005 |
|
rs121908585
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Including our cases, there are 289 reported PDGFRA-mutant GISTs, of which 181 (62.6%) had the imatinib-resistant substitution D842V.
|
15928335 |
2005 |
|
rs121908585
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants.
|
15685537 |
2005 |
|
rs121908585
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Previously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Val561 to Asp and Asp842 to Val, in about half of GISTs without c-kit gene mutations.
|
15221957 |
2004 |
|
rs121908585
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential.
|
15146165 |
2004 |
|
rs121908585
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor.
|
14645423 |
2003 |
|
rs121908585
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
We found 2 types of constitutively activated mutations of PDGFR alpha, Val-561 to Asp or Asp-842 to Val, in 5 of 8 GISTs without KIT mutations but not in 10 GISTs with KIT mutations.
|
12949711 |
2003 |