Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE ASqPCR for the KIT D816V mutation was a useful adjunct in helping identify those with systemic mastocytosis but not monoclonal mast cell activation syndrome. 28629749

2018

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE KIT-D816V-independent oncogenic signaling in neoplastic cells in systemic mastocytosis: role of Lyn and Btk activation and disruption by dasatinib and bosutinib. 21680801

2011

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE Patients with Systemic Mastocytosis (SM) need a highly sensitive diagnostic test for D816V detection of the KIT receptor gene. 25582384

2015

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE The clinical behavior of systemic mastocytosis (SM) is strongly associated with activating mutations in KIT (D816V in >80% of cases), with the severity of the phenotype influenced by additional somatic mutations, for example, in SRSF2, ASXL1, or RUNX1. 29341334

2018

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE The KIT D816V mutation is consistently present in lesional skin in adults with SM. 23774045

2013

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE We therefore conclude that RQ-PCR assays for KIT D81</span>6V are useful complimentary tools for diagnosis, disease monitoring, and evaluation of prognosis in patients with SM. 24281161

2014

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE In most patients with systemic mastocytosis (SM), including aggressive SM (ASM) and mast cell (MC) leukemia (MCL), neoplastic cells express the oncogenic KIT mutation D816V, which confers resistance to imatinib. 20553795

2010

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE This medication inhibits the notoriously resistant Kit D816V mutant and is approved for the treatment of systemic mastocytosis and is effective against tumors bearing the D816V activation/resistance mutation. 29704617

2018

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE The high frequency of KIT(D816V) in neoplastic mast cells and leukaemic myelomonocytic cells in SM-CMML may point to a common precursor in these patients, and may have implications for the biology of the disease and the development of KIT-targeting therapies. 20112369

2010

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE Our results show the presence of D816V KIT mutation in virtually all adults (93%) with indolent and aggressive forms of SM, except well-differentiated SM (29%), while other KIT mutations were rarely (< 3%) detected. 16741248

2006

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE Expression of activated STAT5 in neoplastic mast cells in systemic mastocytosis: subcellular distribution and role of the transforming oncoprotein KIT D816V. 19893034

2009

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE Our findings warrant a clinical trial of ponatinib in patients with systemic mastocytosis harboring D816V KIT. 24552773

2014

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE The presence of the KIT D81</span>6V mutation in the CBF AML subgroup can therefore not be considered indicative of associated SM. 22145956

2012

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE Systemic mastocytosis involving the gastrointestinal tract is associated with the usual D816V KIT mutation. 18931652

2008

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE In both conditions, an aberrantly activated oncoprotein with tyrosine kinase activity, namely BCR-ABL1 in chronic myeloid leukemia, and mutant KIT, mostly KIT D816V, in systemic mastocytosis, is key to disease evolution. 24598853

2014

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE Six other patients reported symptomatic improvement, including two with D816V KIT mutation-positive SM (one reported improvement in diarrhea and the other in fatigue).Other patients had no benefit.Imatinib was relatively well tolerated. 19193436

2009

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE Our results show that aberrant expression of CD25 with a FcɛRI(lo), FSC(lo), SSC(lo) and CD45(lo) immature phenotype of BMMC, in the absence of coexisting normal MC in the BM, was associated with multilineage involvement by the D816V KIT mutation, regardless of the diagnostic subtype of the disease (for example, indolent vs aggressive SM), which supports the utility of the immunophenotype of BMMC as a surrogate marker to screen for multilineage KIT mutation in ISM. 22051531

2012

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V <i>KIT</i> mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms. 28439288

2017

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE We found that in SM 60-99% of the mast cells harboured the KIT D816V mutation. 30975542

2019

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE In summary, we have identified CCL2 as a novel KIT D816V-dependent key regulator of vascular cell migration and angiogenesis in SM. 27856463

2017

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE To conclude, the KIT D816V burden correlates with the variant of mastocytosis, predicts survival, and is a valuable follow-up parameter in SM. 24750133

2014

dbSNP: rs121913682
rs121913682
KIT
0.800 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: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE To explore mechanisms contributing to the clinical heterogeneity of systemic mastocytosis (SM) and to suboptimal responses to diverse therapies, we analyzed 39 KIT D816V mutated patients with indolent SM (n = 10), smoldering SM (n = 2), SM with associated clonal hematologic nonmast cell lineage disorder (SM-AHNMD, n = 5), and aggressive SM (n = 15) or mast cell leukemia (n = 7) with (n = 18) or without (n = 4) AHNMD for additional molecular aberrations. 23958953

2013

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE The analysis of bone marrow and peripheral blood samples of patients with SM showed KIT surface level increase for patients with the KIT D816V mutation but not for patients who had no KIT mutation. 23127495

2013

dbSNP: rs121913682
rs121913682
KIT
0.800 GeneticVariation BEFREE Investigation for presence of the activating KIT point mutation D816V is very helpful to establish a correct diagnosis of SM in all the difficult cases exhibiting a low degree of bone marrow infiltration or puzzling morphological findings. 20616612

2010