rs121913513
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Transformed (L576P)KIT melanocytes showed downregulation of MITF expression characteristic of melanoma initiating cells (MICs).
|
26973244 |
2016 |
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
|
|
|
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
|
|
|
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
|
|
|
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 |
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 |
rs2237028
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, a common SNP, rs2237028, was associated with MM risk, and 6 KIT variants were associated with nevus count.
|
23020152 |
2013 |
rs1060502550
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel Thr574Ala (c.1720A>G) KIT mutation, which has not been reported in melanoma or other tumor types, was identified in one genital melanoma case.
|
21569090 |
2011 |
rs1057520031
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, D816H and K558E mutations of the KIT gene were revealed in the melanoma arising from a mature cystic teratoma, but not in a mature cystic teratoma.
|
19264228 |
2009 |