|
melanoma
|
|
0.710 |
CausalMutation
|
CLINVAR |
Imatinib for melanomas harboring mutationally activated or amplified KIT arising on mucosal, acral, and chronically sun-damaged skin.
|
23775962 |
2013 |
|
melanoma
|
|
0.710 |
CausalMutation
|
CLINVAR |
KIT as a therapeutic target in metastatic melanoma.
|
21642685 |
2011 |
|
melanoma
|
|
0.710 |
CausalMutation
|
CLINVAR |
Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification.
|
21690468 |
2011 |
|
melanoma
|
|
0.710 |
CausalMutation
|
CLINVAR |
KIT as a therapeutic target in metastatic melanoma.
|
21642685 |
2011 |
|
melanoma
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutations in KIT occur at low frequency in melanomas arising from anatomical sites associated with chronic and intermittent sun exposure.
|
20088873 |
2010 |
|
melanoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
Finally, we found significant growth suppressive effects of sunitinib in two acral melanoma cell lines; one harboring the D820Y mutation and one showing SCF-dependent KIT activation.
|
19035443 |
2009 |
|
melanoma
|
|
0.710 |
CausalMutation
|
CLINVAR |
Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor.
|
18955458 |
2008 |
|
melanoma
|
|
0.710 |
CausalMutation
|
CLINVAR |
Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412.
|
15790786 |
2005 |
|
melanoma
|
|
0.710 |
CausalMutation
|
CLINVAR |
Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours.
|
11276010 |
2001 |
|
melanoma
|
|
0.710 |
CausalMutation
|
CLINVAR |
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.
|
9438854 |
1998 |
|
melanoma
|
|
0.710 |
CausalMutation
|
CLINVAR |
Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines.
|
7530509 |
1995 |
|
Gastrointestinal Stromal Tumors
|
|
0.030 |
GeneticVariation
|
BEFREE |
Imatinib delays GIST xenograft growth despite the presence of the D816H resistance mutation.
|
23480638 |
2013 |
|
Gastrointestinal Stromal Tumors
|
|
0.030 |
GeneticVariation
|
BEFREE |
Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways.
|
19847891 |
2010 |
|
Gastrointestinal Stromal Tumors
|
|
0.030 |
GeneticVariation
|
BEFREE |
In a previous study, a KIT germline Asp820Tyr mutation was detected in a Japanese kindred in which 6 individuals had GIST.
|
14699510 |
2004 |
|
Leukemia, Mast-Cell
|
|
0.020 |
GeneticVariation
|
BEFREE |
Recently, we reported that in MCL, KIT with mutations (D816V, human; D814Y, mouse) traffics to endolysosomes (EL), where it can then initiate oncogenic signaling.
|
31484543 |
2019 |
|
Mastocytosis, Systemic
|
|
0.020 |
GeneticVariation
|
BEFREE |
A variant c-KIT mutation, D816H, fundamental to the sequential development of an ovarian mixed germ cell tumor and systemic mastocytosis with chronic myelomonocytic leukemia.
|
27781377 |
2017 |
|
Dysgerminoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The teratoma and dysgerminoma differed by copy number aberrations via single nucleotide polymorphism (SNP) microarray, but were inclusive of the same c-KIT D816H point mutation (c.2446G>C) also identified in blood and bone marrow mast cells.
|
27781377 |
2017 |
|
Mastocytosis, Systemic
|
|
0.020 |
GeneticVariation
|
BEFREE |
Overall, KIT D816 mutations were identified in 146/147 (99 %) of patients (D816V, n = 142; D816H, n = 2; D816Y, n = 2) with SM, including indolent SM (ISM, n = 63, 43 %), smoldering SM (n = 8, 5 %), SM with associated hematological non-mast cell lineage disease (SM-AHNMD, n = 16, 11 %), and aggressive SM/mast cell leukemia ± AHNMD (ASM/MCL, n = 60, 41 %).
|
24281161 |
2014 |
|
Dysgerminoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
A novel missense mutation (D816H) was found in the phosphotransferase domain in tumors of seminoma/dysgerminoma differentiation.
|
10362788 |
1999 |
|
Mast Cell Neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
The mutation, a G-->T transversion at nt 2467 of the c-kit gene resulting in Asp816-->Tyr substitution, corresponds to the D814Y and D817Y mutations identified and characterized in the murine P815 mastocytoma and the rat RBL-2H3 mast cell leukemia cell lines.
|
9714703 |
1998 |
|
Benign Mastocytoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The mutation, a G-->T transversion at nt 2467 of the c-kit gene resulting in Asp816-->Tyr substitution, corresponds to the D814Y and D817Y mutations identified and characterized in the murine P815 mastocytoma and the rat RBL-2H3 mast cell leukemia cell lines.
|
9714703 |
1998 |
|
Leukemia, Mast-Cell
|
|
0.020 |
GeneticVariation
|
BEFREE |
The mutation, a G-->T transversion at nt 2467 of the c-kit gene resulting in Asp816-->Tyr substitution, corresponds to the D814Y and D817Y mutations identified and characterized in the murine P815 mastocytoma and the rat RBL-2H3 mast cell leukemia cell lines.
|
9714703 |
1998 |
|
Mastocytoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The mutation, a G-->T transversion at nt 2467 of the c-kit gene resulting in Asp816-->Tyr substitution, corresponds to the D814Y and D817Y mutations identified and characterized in the murine P815 mastocytoma and the rat RBL-2H3 mast cell leukemia cell lines.
|
9714703 |
1998 |
|
Mast Cell Neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
Mutation at the equivalent position in the murine c-kit gene, involving a substitution of tyrosine for aspartic acid (D814Y), has been described in the mouse mastocytoma cell line P815.
|
8962111 |
1996 |
|
Mastocytoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Mutation at the equivalent position in the murine c-kit gene, involving a substitution of tyrosine for aspartic acid (D814Y), has been described in the mouse mastocytoma cell line P815.
|
8962111 |
1996 |