Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913517
rs121913517
KIT
0.860 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

2016

dbSNP: rs121913517
rs121913517
KIT
0.860 GeneticVariation BEFREE Although targeted therapy involving tyrosine kinase inhibitors (TKIs) such as imatinib mesylate is highly effective for gastrointestinal stromal tumor carrying V560G c-kit mutation, it does not show much potential for targeting wild-type KIT (WT-KIT). 26428235

2016

dbSNP: rs121913517
rs121913517
KIT
0.860 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2015

dbSNP: rs121913517
rs121913517
KIT
0.860 GeneticVariation CLINVAR Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 23582185

2014

dbSNP: rs121913517
rs121913517
KIT
0.860 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

2013

dbSNP: rs121913517
rs121913517
KIT
0.860 GeneticVariation CLINVAR Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725

2011

dbSNP: rs121913517
rs121913517
KIT
0.860 GeneticVariation CLINVAR Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. 17259998

2007

dbSNP: rs121913517
rs121913517
KIT
0.860 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: rs121913517
rs121913517
KIT
0.860 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006

dbSNP: rs121913517
rs121913517
KIT
0.860 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
0.860 GeneticVariation UNIPROT Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. 11505412

2001

dbSNP: rs121913517
rs121913517
KIT
0.860 GeneticVariation BEFREE The single missense mutation (Val560Asp) is very similar to the only other missense mutation reported in GISTs (Val599Asp). 10086344

1999

dbSNP: rs121913517
rs121913517
KIT
0.860 GeneticVariation UNIPROT Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998

dbSNP: rs121913517
rs121913517
KIT
0.860 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998

dbSNP: rs121908585
rs121908585
0.790 GeneticVariation BEFREE Patients, platelet-derived growth factor receptor alpha (PDGFRA) D842V-mutated gastrointestinal stromal tumours (GISTs) are known for their insensitivity to imatinib. 28284172

2017

dbSNP: rs121908585
rs121908585
0.790 CausalMutation CLINVAR Efficacy of Imatinib in Patients with Platelet-Derived Growth Factor Receptor Alpha-Mutated Gastrointestinal Stromal Tumors. 26130666

2016

dbSNP: rs121908585
rs121908585
0.790 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2015

dbSNP: rs121908585
rs121908585
0.790 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
0.790 CausalMutation CLINVAR Crenolanib inhibits the drug-resistant PDGFRA D842V mutation associated with imatinib-resistant gastrointestinal stromal tumors. 22745105

2013

dbSNP: rs121908585
rs121908585
0.790 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

2013

dbSNP: rs121908585
rs121908585
0.790 GeneticVariation BEFREE Crenolanib inhibits the drug-resistant PDGFRA D842V mutation associated with imatinib-resistant gastrointestinal stromal tumors. 22745105

2013

dbSNP: rs121908585
rs121908585
0.790 CausalMutation CLINVAR Outcome of patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors in the tyrosine kinase inhibitor era. 22718859

2013

dbSNP: rs121908585
rs121908585
0.790 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

dbSNP: rs121908585
rs121908585
0.790 CausalMutation CLINVAR Activity of dasatinib, a dual SRC/ABL kinase inhibitor, and IPI-504, a heat shock protein 90 inhibitor, against gastrointestinal stromal tumor-associated PDGFRAD842V mutation. 18794084

2008

dbSNP: rs121908585
rs121908585
0.790 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