rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
0.760
GeneticVariation
BEFREE
Transformed (L576P )KIT melanocytes showed downregulation of MITF expression characteristic of melanoma initiating cells (MICs).
26973244
2016
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
0.760
CausalMutation
CLINVAR
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
25157968
2014
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
0.760
CausalMutation
CLINVAR
Sunitinib therapy for melanoma patients with KIT mutations.
22261812
2012
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
0.760
CausalMutation
CLINVAR
KIT as a therapeutic target in metastatic melanoma.
21642685
2011
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
0.760
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
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
0.760
CausalMutation
CLINVAR
Anal mucosal melanoma with KIT-activating mutation and response to imatinib therapy--case report and review of the literature.
19996579
2010
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
0.760
GeneticVariation
BEFREE
The overall frequency of activating KIT gene mutations in acral lentiginous/mucosal melanomas was 15% (14 out of 91 cases), being the L576P mutation in exon 11 the most frequently detected (4 of 14 cases).
19718013
2009
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
0.760
GeneticVariation
BEFREE
Activity of dasatinib against L576P KIT mutant melanoma : molecular, cellular, and clinical correlates.
19671763
2009
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
0.760
CausalMutation
CLINVAR
We have identified the first human melanoma cell line with an endogenous L576P mutation, the most common KIT mutation in melanoma ( approximately 30-40%).
19671763
2009
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
0.760
CausalMutation
CLINVAR
KIT gene mutations and copy number in melanoma subtypes.
18980976
2008
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
0.760
GeneticVariation
BEFREE
L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition.
17372901
2007
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
0.760
CausalMutation
CLINVAR
L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition.
17372901
2007
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
0.760
CausalMutation
CLINVAR
Somatic activation of KIT in distinct subtypes of melanoma.
16908931
2006
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
0.760
GeneticVariation
BEFREE
Evaluation of the DNA sequencing electropherograms from all 3 cases of L576P mutation-positive melanoma suggests a selective loss of the normal allele.
16647948
2006
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
0.760
GeneticVariation
BEFREE
Interestingly, the exon 11-activating mutation was L576P , the same mutation that characterizes the rare c-kit mutation-positive cases of malignant melanoma .
16741525
2006
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
0.760
CausalMutation
CLINVAR
Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412.
15790786
2005
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
0.760
CausalMutation
CLINVAR
Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours.
11276010
2001
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
0.760
CausalMutation
CLINVAR
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.
9438854
1998
rs121913513
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
0.760
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
rs1057519710
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
T
0.710
CausalMutation
CLINVAR
Imatinib for melanomas harboring mutationally activated or amplified KIT arising on mucosal, acral, and chronically sun-damaged skin.
23775962
2013
rs1057519710
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
T
0.710
CausalMutation
CLINVAR
KIT as a therapeutic target in metastatic melanoma.
21642685
2011
rs1057519710
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
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
rs1057519710
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
C
0.710
CausalMutation
CLINVAR
KIT as a therapeutic target in metastatic melanoma.
21642685
2011
rs1057519710
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
melanoma
T
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
rs1057519710
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
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