Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE This is typified by midostaurin, which has been approved by the US Food and Drug Administration for mutant FLT3-positive AML and for KIT D816V-positive SM. 31309543

2019

dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE In AML cohort of 239 patients, high IL2RA mRNA expression independently predicted shorter relapse free survival (RFS, p < 0.001) and overall survival (OS, p < 0.001) irrespective of age, cytogenetics, FLT3-ITD or c-KIT D816V mutational status. 31171000

2019

dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE The oncogenic D816V mutation of the KIT receptor is well characterized in systemic mastocytosis and acute myeloid leukemia. 28584020

2017

dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE Asp816Val mutation was found in 3.5% of cases of AML and Val560Gly mutation in 1 sample with acute biclonal leukemia. 25247397

2015

dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE We found the activity of protein phosphatase 2A (PP2A), a human tumor suppressor whose dysfunction contributes to malignant cell behavior, was significantly decreased in AML subgroups harboring C-KIT/D816V and AML cell line Kasumi-1 bearing C-KIT/N822K mutation. 22109829

2012

dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE Moreover, our data show that AML blasts may lack this transforming target-mutant, which may be important when considering the use of KIT D816V-targeting drugs for treatment of patients with KIT D816V-positive AML. 20471335

2010

dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE Dasatinib has in vitro and in vivo efficacy in SM-AML patients with KIT(D816V) mutation. 18986703

2009

dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE There were no amplifications among 64 KIT wild-type tumors and cell lines, whereas all D816V-mutant samples (eight AML and 11 mast cell disease) were positive. 17065430

2006

dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE Because the D816V mutation was detected in the initial bone marrow specimen, strict application of three minor diagnostic criteria (spindling, CD25, D816V) enabled a diagnosis of SM-AML to be confirmed retrospectively in the initial bone marrow tissue. 14990611

2004

dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively activates murine c-kit receptor tyrosine kinase (KIT), and Asp816Val mutation, corresponding to murine Asp814Val mutation, is found in patients with mastocytosis and acute myelocytic leukemia. 12393643

2003

dbSNP: rs121913507
rs121913507
KIT
0.100 GeneticVariation BEFREE Systemic mastocytosis associated with acute myeloid leukaemia: report of two cases and detection of the c-kit mutation Asp-816 to Val. 9858225

1998