Gene: KIT ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913513
rs121913513
KIT
0.730 GeneticVariation BEFREE Activate and resist: L576P-KIT in GIST. 19723893

2009
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: 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: 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: rs121913506
rs121913506
KIT
0.710 GeneticVariation BEFREE Imatinib delays GIST xenograft growth despite the presence of the D816H resistance mutation. 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: rs1057519710
rs1057519710
KIT
0.030 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 Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways. 19847891

2010
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: 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
dbSNP: rs121913682
rs121913682
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
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: rs17084733
rs17084733
KIT
0.010 GeneticVariation BEFREE We identified the <i>KIT</i> variant rs17084733 as a possible novel genetic biomarker for risk of developing <i>KIT</i>-WT GIST. 30983504

2019
dbSNP: rs1057519711
rs1057519711
KIT
0.010 GeneticVariation BEFREE These were PDX models harboring primary and secondary <i>KIT</i> and additional mutations; <i>KIT</i> exon 11 (p.Y570_L576del), <i>KIT</i> exon 17 (p.D816E), and <i>PTEN</i> (p.T321fs) mutations in GIST-RX1 from a patient who was unresponsive to imatinib, sunitinib, and sorafenib, and <i>KIT</i> exon 11 (p.K550_splice) and <i>KIT</i> exon 14 (p.T670I) mutations in GIST-RX2 and <i>KIT</i> exon 9 (p.502_503insYA) and <i>KIT</i> exon 17 (p.D820E) mutations in GIST-RX4 from patients with imatinib and imatinib/sunitinib resistance, respectively. 29100343

2017
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