| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.740 | 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 |
||||
|
A | 0.740 | GeneticVariation | CLINVAR | Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | 25157968 | 2014 |
|||
|
G | 0.740 | GeneticVariation | CLINVAR | Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | 25157968 | 2014 |
|||
|
A | 0.740 | GeneticVariation | CLINVAR | KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients. | 19164557 | 2009 |
|||
|
G | 0.740 | GeneticVariation | CLINVAR | The aberrant localization of oncogenic kit tyrosine kinase receptor mutants is reversed on specific inhibitory treatment. | 19737976 | 2009 |
|||
|
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 |
||||
|
A | 0.740 | GeneticVariation | CLINVAR | An update on molecular genetics of gastrointestinal stromal tumours. | 16731599 | 2006 |
|||
|
G | 0.740 | GeneticVariation | CLINVAR | An update on molecular genetics of gastrointestinal stromal tumours. | 16731599 | 2006 |
|||
|
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 |
||||
|
0.740 | GeneticVariation | BEFREE | The single missense mutation (Val560Asp) is very similar to the only other missense mutation reported in GISTs (Val599Asp). | 10086344 | 1999 |