Gene: KIT ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913513
rs121913513
KIT
0.760 GeneticVariation BEFREE Transformed (L576P)KIT melanocytes showed downregulation of MITF expression characteristic of melanoma initiating cells (MICs). 26973244

2016
dbSNP: rs121913513
rs121913513
KIT
C 0.760 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913513
rs121913513
KIT
C 0.760 CausalMutation CLINVAR Sunitinib therapy for melanoma patients with KIT mutations. 22261812

2012
dbSNP: rs121913513
rs121913513
KIT
C 0.760 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685

2011
dbSNP: rs121913513
rs121913513
KIT
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
dbSNP: rs121913513
rs121913513
KIT
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
dbSNP: rs121913513
rs121913513
KIT
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
dbSNP: rs121913513
rs121913513
KIT
0.760 GeneticVariation BEFREE Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763

2009
dbSNP: rs121913513
rs121913513
KIT
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
dbSNP: rs121913513
rs121913513
KIT
C 0.760 CausalMutation CLINVAR KIT gene mutations and copy number in melanoma subtypes. 18980976

2008
dbSNP: rs121913513
rs121913513
KIT
0.760 GeneticVariation BEFREE L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901

2007
dbSNP: rs121913513
rs121913513
KIT
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
dbSNP: rs121913513
rs121913513
KIT
C 0.760 CausalMutation CLINVAR Somatic activation of KIT in distinct subtypes of melanoma. 16908931

2006
dbSNP: rs121913513
rs121913513
KIT
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
dbSNP: rs121913513
rs121913513
KIT
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
dbSNP: rs121913513
rs121913513
KIT
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
dbSNP: rs121913513
rs121913513
KIT
C 0.760 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
dbSNP: rs121913513
rs121913513
KIT
C 0.760 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998
dbSNP: rs121913513
rs121913513
KIT
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
dbSNP: rs1057519710
rs1057519710
KIT
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
dbSNP: rs1057519710
rs1057519710
KIT
T 0.710 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685

2011
dbSNP: rs1057519710
rs1057519710
KIT
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
dbSNP: rs1057519710
rs1057519710
KIT
C 0.710 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685

2011
dbSNP: rs1057519710
rs1057519710
KIT
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
dbSNP: rs1057519710
rs1057519710
KIT
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