|
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 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
BRAF V600E mutation-specific immunohistochemistry is a highly sensitive and specific method for detecting BRAF-mutated GISTs.
|
26486743 |
2015 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The aims of this study were to investigate whether succinate dehydrogenase B (SDHB), insulin growth factor 1 receptor (IGF1R), HER2, epidermal growth factor receptor (EGFR) and/or BRAF V600E immunohistochemistry could screen for wild-type gastrointestinal stromal tumours (GISTs), and to determine what proportion of wild-type GISTs expressed these proteins and might therefore represent candidates for targeted therapies.
|
25659413 |
2015 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The BRAF(V600E) melanoma mutation, like the KIT exon 11 mutation in GIST, has the highest response to therapy.
|
24531699 |
2014 |
|
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 |
|
rs113488022
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
We report prolonged antitumor activity in the first patient with V600E BRAF-mutated GIST who was treated with a BRAF inhibitor.
|
23470635 |
2013 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We report prolonged antitumor activity in the first patient with V600E BRAF-mutated GIST who was treated with a BRAF inhibitor.
|
23470635 |
2013 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We constructed tissue microarrays of formalin-fixed and paraffin-embedded specimens of 534 gastroesophageal tumors (119 squamous cell cancers and 72 adenocarcinomas of the esophagus, 63 cancers of the gastroesophageal junction/cardia, 199 gastric cancers of the corpus or antrum, 81 gastric gastrointestinal stromal tumors) and performed anti-BRAF-V600E immunostaining using the mutation-specific antibody VE1.
|
23343956 |
2013 |
|
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 |
|
rs113488022
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.
|
22608338 |
2012 |
|
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 |
|
rs113488022
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Improved survival with vemurafenib in melanoma with BRAF V600E mutation.
|
21639808 |
2011 |
|
rs113488022
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Inhibition of mutated, activated BRAF in metastatic melanoma.
|
20818844 |
2010 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
BRAF V600E detection in the tumor does not induce a higher expression of the B-raf protein or the preferential activation of the p42/44 mitogen-activated protein kinase (MAPK) signaling pathway compared with GISTs without the BRAF mutation.
|
20023270 |
2010 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
BRAF mutations (V600E) were detected in 2 of 28 wild-type GISTs (7%), but in none of the 41 KIT/PDGFRA mutants.No KRAS mutation was detected.
|
19561230 |
2009 |
|
rs113488022
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
BRAF mutations (V600E) were detected in 2 of 28 wild-type GISTs (7%), but in none of the 41 KIT/PDGFRA mutants.No KRAS mutation was detected.
|
19561230 |
2009 |
|
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
An identical V600E BRAF mutation was also identified in one of 28 imatinib resistant GIST lacking a defined mechanism of drug resistance.
|
18615679 |
2008 |
|
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 |