|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This molecular fingerprint strongly argues against the clinical efficacy of BRAF-inhibitors, but could candidate primary sinonasal mucosal melanomas to therapeutic strategies targeting RAS and KIT mutations or inhibiting PI3K-Akt-mTOR pathway.
|
22791410 |
2013 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A single-group, open-label, phase 2 trial at 1 community and 5 academic oncology centers in the United States of 295 patients with melanoma screened for the presence of KIT mutations and amplification between April 23, 2007, and April 16, 2010.
|
21642685 |
2011 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Further investigation into the causes of acquired resistance to imatinib will be essential to improve the prognosis for patients with KIT-mutated melanoma.
|
28421416 |
2017 |
|
melanoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
LMTK3 is essential for oncogenic KIT expression in KIT-mutant GIST and melanoma.
|
30242244 |
2019 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A UV mutation signature was associated with nevus and melanoma formation in POT1 variant carriers, and somatic mutations in driver genes such as BRAF, NRAS, and KIT were associated with lesion development in these patients.
|
30586141 |
2019 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our study evidences a significant association between STAT3 inhibition and response to nilotinib, and provides a rationale for future research assessing STAT inhibitors in KIT-mutated melanoma.
|
28843487 |
2018 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We sought to determine the association of increased copy numbers of GAB2 among melanoma subtypes in the context of genetic alterations in BRAF, NRAS, and KIT.
|
19509136 |
2009 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
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 |
|
melanoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
"Study of the role of ""gatekeeper"" mutations V654A and T670I of c-kit kinase in the interaction with inhibitors by means mixed molecular dynamics/docking approach."
|
22355224 |
2011 |
|
melanoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
KIT mutations and CD117 overexpression are markers of better progression-free survival in vulvar melanomas.
|
28734009 |
2017 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Stimulation of the c-Kit receptor tyrosine kinase has a critical role in the development and migration of melanocytes, and oncogenic c-Kit mutants contribute to the progression of some melanomas. c-Kit signalling activates the mitogen-activated protein kinase (MAPK) and phosphatidylinositol 3-kinase (PI3K) pathways and their relative contribution to the activities of oncogenic and ligand-dependent c-Kit remains uncertain.
|
23246970 |
2014 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
KIT mutations appear to be specific for melanomas of the vulva, suggesting that in spite of the anatomic proximity, the development of vulvar and vaginal melanomas involves different molecular alterations which may be targeted by novel treatment approaches.
|
24603591 |
2014 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Following the successes of BRAF-targeted therapy in melanoma and KIT-targeted therapy in gastrointestinal stromal tumors, small-molecule tyrosine kinase inhibitors targeting KIT have been examined in KIT-mutated melanoma.
|
30707374 |
2019 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Eleven percent of the melanomas tested had mutations in KIT, 23% in BRAF, 14% in NRAS, and none in GNAQ.
|
22261812 |
2012 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although BRAF and KIT mutations are well-known melanocytic tumour-promoting mutations frequently found in cutaneous melanoma, they are rare or absent in CCS.
|
23796270 |
2013 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Since AP-2alpha regulates several genes associated with the metastatic potential of melanoma including c-KIT, VEGF, PAR-1, MCAM/MUC18, and p21(Waf1), our data identified CREB as a major regulator of the malignant melanoma phenotype.
|
20805990 |
2010 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
KIT mutations were detected in 23% (3 of 13) of acral melanomas, 15.6% (7 of 45) of mucosal melanomas, 7.7% (1 of 13) of conjunctival melanomas, 1.7% (1 of 58) of cutaneous melanomas, and 0% (0 of 60) of choroidal melanomas.
|
18980976 |
2008 |
|
melanoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study adds to the evidence that a substantial portion of MMs carry a therapeutically relevant mutation in the KIT oncogene.
|
21971089 |
2011 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
KIT mutations were detected in 9 (23.1%) of 39 cases of primary acral melanomas.
|
23528861 |
2013 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
To uncover other potential targetable mutations, we conducted whole-genome sequencing of a highly aggressive BRAF (V600) and KIT (W557, V559, L576, K642, and D816) wild-type melanoma.
|
22798288 |
2012 |
|
melanoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
KIT mutations were detected in 23% (3 of 13) of acral melanomas, 15.6% (7 of 45) of mucosal melanomas, 7.7% (1 of 13) of conjunctival melanomas, 1.7% (1 of 58) of cutaneous melanomas, and 0% (0 of 60) of choroidal melanomas.
|
18980976 |
2008 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, there are few reported cases of successful imatinib therapy in patients with melanoma containing KIT gene mutation or c-kit protein expression.
|
22643209 |
2012 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data support the selective inhibitory effect of dasatinib against cells harboring the most common KIT mutation in melanoma, and thus has therapeutic implications for acrallentiginous, chronic sun-damaged, and mucosal melanomas.
|
19671763 |
2009 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mucosal melanoma differs from cutaneous melanoma not only in terms of poorer clinical outcome but also on the molecular level having e.g. less BRAF and more frequent KIT mutations than cutaneous melanomas.
|
28380455 |
2017 |