| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.760 | GeneticVariation | CLINVAR | Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | 25157968 | 2014 |
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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 | 2013 |
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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 |
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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 |
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0.760 | GeneticVariation | BEFREE | Abnormal elevated PTEN expression in the mouse antrum of a model of GIST Kit(K641E/K641E). | 21757001 | 2011 |
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|
0.760 | GeneticVariation | BEFREE | A mouse model harbouring a germline Kit K641E mutant was created to model familial GIST. | 19453770 | 2009 |
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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 |
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G | 0.760 | GeneticVariation | CLINVAR | 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 |
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G | 0.760 | GeneticVariation | CLINVAR | To investigate the function of activated c-KIT in GIST, we established a human GIST cell line, GIST882, which expresses an activating KIT mutation (K642E) in the first part of the cytoplasmic split tyrosine kinase domain. | 11526490 | 2001 |