|
leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells.
|
31484543 |
2019 |
|
Childhood Leukemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells.
|
31484543 |
2019 |
|
Mastocytosis, Systemic
|
|
0.020 |
GeneticVariation
|
BEFREE |
Systemic mastocytosis with <i>KIT</i> V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome.
|
28439288 |
2017 |
|
Skin lesion
|
|
0.010 |
GeneticVariation
|
BEFREE |
To the best of our knowledge this first report of a patient with ISM, whose bone marrow MCs carry the <i>KIT</i> V560G activating mutation, manifesting as recurrent spontaneous episodes of flushing and vascular collapse in the absence of skin lesions at the time of diagnosis, in whom disodium cromoglycate had led to long term clinical remission.
|
28439288 |
2017 |
|
Gastrointestinal Stromal Tumors
|
|
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 |
|
Childhood Leukemia
|
|
0.020 |
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 |
|
leukemia
|
|
0.020 |
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 |
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
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 |
|
Gastrointestinal Stromal Tumors
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
Gastrointestinal Stromal Tumors
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
Mastocytosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis.
|
23777495 |
2013 |
|
Leukemia, Mast-Cell
|
|
0.010 |
GeneticVariation
|
BEFREE |
Ponatinib was found to inhibit the kinase activity of KIT G560V and KIT D816V in the human mast cell leukemia cell line HMC-1.
|
23539538 |
2013 |
|
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
In this study, we show that myeloid cells expressing activated c-KIT mutants that are imatinib sensitive (V560G) or imatinib resistant (D816V) can inhibit the tumor suppressor activity of protein phosphatase 2A (PP2A).
|
20551067 |
2010 |
|
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
V560G-KIT FDC-P1 tumor FDG uptake was significantly reduced compared with baseline levels following 2 days of nilotinib treatment.
|
20442311 |
2010 |
|
Gastrointestinal Stromal Tumors
|
|
0.740 |
GeneticVariation
|
CLINVAR |
The aberrant localization of oncogenic kit tyrosine kinase receptor mutants is reversed on specific inhibitory treatment.
|
19737976 |
2009 |
|
Gastrointestinal Stromal Tumors
|
|
0.740 |
GeneticVariation
|
CLINVAR |
KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients.
|
19164557 |
2009 |
|
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib.
|
18936790 |
2008 |
|
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib.
|
18936790 |
2008 |
|
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib.
|
18936790 |
2008 |
|
Gastrointestinal Stromal Tumors
|
|
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 |
|
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
Multiple GISTs and other tumors may be caused by germline PDGFRA gene mutations; the V561D mutation can occur in the germline state and lead to a syndrome that should not be confused with other genetic conditions associated with a predisposition to NETs and other tumors.
|
17566086 |
2007 |
|
Neuroendocrine Tumors
|
|
0.010 |
GeneticVariation
|
BEFREE |
Multiple GISTs and other tumors may be caused by germline PDGFRA gene mutations; the V561D mutation can occur in the germline state and lead to a syndrome that should not be confused with other genetic conditions associated with a predisposition to NETs and other tumors.
|
17566086 |
2007 |
|
Carcinogenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
A number of chromosomal loci are likely to be involved in the PDGFRA V561D-dependent tumorigenesis, as shown by CGH and other DNA analyses.
|
17566086 |
2007 |
|
Mastocytosis, Systemic
|
|
0.020 |
GeneticVariation
|
BEFREE |
We investigated the inhibitory activity of the novel tyrosine kinase inhibitor EXEL-0862 against 2 subclones of human mast cell line-1 (HMC-1)-HMC-1.1, harboring the juxtamembrane domain mutation V560G, and HMC-1.2, carrying V560G and the activation loop mutation D816V, found in more than 80% of patients with SM.
|
16912224 |
2007 |