|
Gastrointestinal Stromal Tumors
|
|
0.740 |
GeneticVariation
|
BEFREE |
The single missense mutation (Val560Asp) is very similar to the only other missense mutation reported in GISTs (Val599Asp).
|
10086344 |
1999 |
|
Gastrointestinal Stromal Tumors
|
|
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 |
|
Neoplasms
|
|
0.040 |
GeneticVariation
|
BEFREE |
Consistent with the PET results, expression of the glucose transporter, GLUT1, was significantly reduced in V560G tumors at 4 hours, preceding changes in markers of proliferation by several hours.
|
16266981 |
2005 |
|
Gastrointestinal Stromal Tumors
|
|
0.740 |
GeneticVariation
|
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
|
Gastrointestinal Stromal Tumors
|
|
0.740 |
GeneticVariation
|
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
|
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 |
|
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 |
|
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
|
CLINVAR |
KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients.
|
19164557 |
2009 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Mastocytosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis.
|
23777495 |
2013 |
|
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 |
|
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 |