rs121913513
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Transformed (L576P)KIT melanocytes showed downregulation of MITF expression characteristic of melanoma initiating cells (MICs).
|
26973244 |
2016 |
rs121913513
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
rs121913513
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
Sunitinib therapy for melanoma patients with KIT mutations.
|
22261812 |
2012 |
rs121913513
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
KIT as a therapeutic target in metastatic melanoma.
|
21642685 |
2011 |
rs121913513
|
|
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
|
|
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
|
|
|
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
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates.
|
19671763 |
2009 |
rs121913513
|
|
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
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
KIT gene mutations and copy number in melanoma subtypes.
|
18980976 |
2008 |
rs121913513
|
|
|
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
|
|
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
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
Somatic activation of KIT in distinct subtypes of melanoma.
|
16908931 |
2006 |
rs121913513
|
|
|
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
|
|
|
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
|
|
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
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours.
|
11276010 |
2001 |
rs121913513
|
|
C |
0.760 |
CausalMutation |
CLINVAR |
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.
|
9438854 |
1998 |
rs121913513
|
|
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
|
|
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
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
KIT as a therapeutic target in metastatic melanoma.
|
21642685 |
2011 |
rs1057519710
|
|
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
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
KIT as a therapeutic target in metastatic melanoma.
|
21642685 |
2011 |
rs1057519710
|
|
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
|
|
|
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 |