Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913517
rs121913517
KIT
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

dbSNP: rs121913517
rs121913517
KIT
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

dbSNP: rs121913517
rs121913517
KIT
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

dbSNP: rs121913517
rs121913517
KIT
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

dbSNP: rs121913517
rs121913517
KIT
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

dbSNP: rs113488022
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

dbSNP: rs113488022
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

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE GISTs with the BRAF V600E mutation are relatively benign tumors with a distinctive molecular mechanism. 28034324

2017

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE We identified BRAF V600E</span> point mutation in 4 % of KIT/PDGFRA wild-type GIST patients. 31708372

2019

dbSNP: rs113488022
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

dbSNP: rs113488022
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

dbSNP: rs113488022
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

dbSNP: rs113488022
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

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE BRAF V600E mutation-specific immunohistochemistry is a highly sensitive and specific method for detecting BRAF-mutated GISTs. 26486743

2015

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Sorafenib-responsive GISTs were BRAF wild-type, whereas the sorafenib-resistant GIST carried a BRAF V600E mutation. 30179868

2019

dbSNP: rs113488022
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

dbSNP: rs121908585
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

dbSNP: rs121908585
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

dbSNP: rs121908585
rs121908585
0.800 GeneticVariation BEFREE Patients with D842V-mutated GISTs can occasionally respond to imatinib. 28284172

2017

dbSNP: rs121908585
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

dbSNP: rs121908585
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

dbSNP: rs121908585
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

dbSNP: rs121908585
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

dbSNP: rs121908585
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

dbSNP: rs121908585
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