Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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 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 BEFREE The single missense mutation (Val560Asp) is very similar to the only other missense mutation reported in GISTs (Val599Asp). 10086344

1999

dbSNP: rs121913512
rs121913512
KIT
0.760 GeneticVariation BEFREE Imatinib was efficient in GISTs with p.K642E mutation with a disease control rate superior to 90% whatever the sporadic or inherited origin of the tumour. 23648119

2014

dbSNP: rs121913512
rs121913512
KIT
0.760 GeneticVariation BEFREE Here we have investigated Eng expression in the Kit(K641E) mouse GIST model, in human GIST and in the Ba/F3 cell model. 21435173

2012

dbSNP: rs121913512
rs121913512
KIT
0.760 GeneticVariation BEFREE Abnormal elevated PTEN expression in the mouse antrum of a model of GIST Kit(K641E/K641E). 21757001

2011

dbSNP: rs121913512
rs121913512
KIT
0.760 GeneticVariation BEFREE Here we characterized Ntsr1 mRNA and protein expression in the murine Kit(K641E) GIST model and in tissue microarrays of human GIST. 21364741

2011

dbSNP: rs121913512
rs121913512
KIT
0.760 GeneticVariation BEFREE Kit K641E oncogene up-regulates Sprouty homolog 4 and trophoblast glycoprotein in interstitial cells of Cajal in a murine model of gastrointestinal stromal tumours. 19453770

2010

dbSNP: rs121913512
rs121913512
KIT
0.760 GeneticVariation BEFREE Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KIT K642E mutation. 17824795

2007

dbSNP: rs121913513
rs121913513
KIT
0.730 GeneticVariation BEFREE A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro). 27771813

2017

dbSNP: rs121913521
rs121913521
KIT
0.730 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: rs121913513
rs121913513
KIT
0.730 GeneticVariation BEFREE A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis. 23598963

2013

dbSNP: rs121913513
rs121913513
KIT
0.730 GeneticVariation BEFREE Activate and resist: L576P-KIT in GIST. 19723893

2010

dbSNP: rs121913521
rs121913521
KIT
0.730 GeneticVariation BEFREE The patient was found to carry a germline PDGFRA mutation (V561D) in the heterozygote state; it has only been seen rarely before and only in the somatic state in sporadic GISTs. 17566086

2007

dbSNP: rs121913521
rs121913521
KIT
0.730 GeneticVariation BEFREE The single missense mutation (Val560Asp) is very similar to the only other missense mutation reported in GISTs (Val599Asp). 10086344

1999

dbSNP: rs121913523
rs121913523
KIT
0.720 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

dbSNP: rs121913523
rs121913523
KIT
0.720 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

dbSNP: rs121913516
rs121913516
KIT
0.710 GeneticVariation BEFREE Herein, by introducing adaptive elements into the inhibitor core structure, we undertake the structure-based development of type II hybrid inhibitors to overcome gatekeeper drug-resistant mutations in cSrc-T338M, as well as clinically relevant tyrosine kinase KIT-T670I and Abl-T315I variants, as essential targets in gastrointestinal stromal tumors (GISTs) and chronic myelogenous leukemia (CML). 23773153

2014

dbSNP: rs121913506
rs121913506
KIT
0.710 GeneticVariation BEFREE Intermittent and continuous imatinib in a human GIST xenograft model carrying KIT exon 17 resistance mutation D816H. 23480638

2013

dbSNP: rs121913520
rs121913520
KIT
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

dbSNP: rs121913235
rs121913235
KIT
0.710 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

dbSNP: rs121913507
rs121913507
KIT
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