Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913521
rs121913521
KIT
0.740 GeneticVariation BEFREE The single missense mutation (Val560Asp) is very similar to the only other missense mutation reported in GISTs (Val599Asp). 10086344

1999

dbSNP: rs1057519710
rs1057519710
KIT
0.030 GeneticVariation BEFREE In a previous study, a KIT germline Asp820Tyr mutation was detected in a Japanese kindred in which 6 individuals had GIST. 14699510

2004

dbSNP: rs121913235
rs121913235
KIT
0.730 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: rs121913521
rs121913521
KIT
0.740 GeneticVariation BEFREE Molecular study revealed a mutation at the juxtamembrane domain of exon 12 in PDGFRA gene with GTC to GAC transition at codon 561 (V561D), as shown in the previous mutational studies on gastrointestinal stromal tumor (GIST). 15894928

2005

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: rs780708976
rs780708976
KIT
0.010 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: rs121913523
rs121913523
KIT
0.730 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: rs121913507
rs121913507
KIT
0.020 GeneticVariation BEFREE Whereas KIT juxtamembrane domain mutations seen in most patients with GIST are highly sensitive to imatinib, the kinase activation loop mutant D816V, frequently encountered in SM, hampers the binding ability of imatinib. 16912224

2007

dbSNP: rs121913682
rs121913682
KIT
0.020 GeneticVariation BEFREE Whereas KIT juxtamembrane domain mutations seen in most patients with GIST are highly sensitive to imatinib, the kinase activation loop mutant D816V, frequently encountered in SM, hampers the binding ability of imatinib. 16912224

2007

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: 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: rs121913523
rs121913523
KIT
0.730 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: rs121913521
rs121913521
KIT
0.740 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: rs121913512
rs121913512
KIT
0.760 GeneticVariation BEFREE We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal. 17824795

2007

dbSNP: rs121913512
rs121913512
KIT
0.760 GeneticVariation BEFREE A mouse model harbouring a germline Kit K641E mutant was created to model familial GIST. 19453770

2009

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

2009

dbSNP: rs1057519710
rs1057519710
KIT
0.030 GeneticVariation BEFREE Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways. 19847891

2010

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 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: 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: rs121913235
rs121913235
KIT
0.730 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: rs121913506
rs121913506
KIT
0.710 GeneticVariation BEFREE Imatinib delays GIST xenograft growth despite the presence of the D816H resistance mutation. 23480638

2013

dbSNP: rs1057519710
rs1057519710
KIT
0.030 GeneticVariation BEFREE Imatinib delays GIST xenograft growth despite the presence of the D816H resistance mutation. 23480638

2013

dbSNP: rs121913513
rs121913513
KIT
0.730 GeneticVariation BEFREE Sequencing of DNA extracted from tumor tissue of one of his GISTs revealed the KIT mutation in exon 11 (c.1727T>C). 23598963

2013