|
rs11554290
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Besides confirming the presence of known melanoma driver mutations (BRAF(V600E), NRAS(Q61R) ), we identified novel mutated genes involved in signalling pathways crucial for melanoma pathogenesis and already addressed by current targeted therapies (such as MAPK and glutamate pathways).
|
23704925 |
2013 |
|
rs11554290
|
|
melanoma
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Differential sensitivity of melanoma cell lines with BRAFV600E mutation to the specific Raf inhibitor PLX4032.
|
20406486 |
2010 |
|
rs11554290
|
|
melanoma
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors.
|
23614898 |
2013 |
|
rs11554290
|
|
melanoma
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors.
|
23614898 |
2013 |
|
rs11554290
|
|
melanoma
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors.
|
23614898 |
2013 |
|
rs11554290
|
|
melanoma
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Distinct sets of genetic alterations in melanoma.
|
16291983 |
2005 |
|
rs11554290
|
|
melanoma
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Distinct sets of genetic alterations in melanoma.
|
16291983 |
2005 |
|
rs11554290
|
|
melanoma
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Distinct sets of genetic alterations in melanoma.
|
16291983 |
2005 |
|
rs11554290
|
|
melanoma
|
G |
0.800 |
CausalMutation
|
CLINVAR |
First-in-human, phase I dose-escalation study of the safety, pharmacokinetics, and pharmacodynamics of RO5126766, a first-in-class dual MEK/RAF inhibitor in patients with solid tumors.
|
22761467 |
2012 |
|
rs11554290
|
|
melanoma
|
A |
0.800 |
CausalMutation
|
CLINVAR |
First-in-human, phase I dose-escalation study of the safety, pharmacokinetics, and pharmacodynamics of RO5126766, a first-in-class dual MEK/RAF inhibitor in patients with solid tumors.
|
22761467 |
2012 |
|
rs11554290
|
|
melanoma
|
C |
0.800 |
CausalMutation
|
CLINVAR |
First-in-human, phase I dose-escalation study of the safety, pharmacokinetics, and pharmacodynamics of RO5126766, a first-in-class dual MEK/RAF inhibitor in patients with solid tumors.
|
22761467 |
2012 |
|
rs11554290
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Formalin-fixed and paraffin-embedded melanoma tissues were analyzed for BRAF and NRAS mutations by independent, blinded observers using both conventional DNA molecular techniques and immunohistochemistry with the novel anti-human N-Ras (Q61R) monoclonal antibody (clone SP174).
|
25341653 |
2015 |
|
rs11554290
|
|
melanoma
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Furthermore, PLX4032 increased the rate of proliferation of growth factor-dependent NRAS Q61L mutant primary melanoma cells, reduced cell adherence and increased mobility of cells from advanced lesions.
|
20149136 |
2010 |
|
rs11554290
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Genetic analysis revealed an activating NRAS Q61R mutation within the melanoma, which is more commonly associated with large or giant congenital melanocytic nevi.
|
27573553 |
2016 |
|
rs11554290
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Here, we report that guanosine monophosphate synthase (GMPS), an enzyme required for the de novo biosynthesis of GMP, has a major role in invasion and tumorigenicity of cells derived from either BRAF(V600E) or NRAS(Q61R) human metastatic melanomas.
|
25909885 |
2015 |
|
rs11554290
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In our study, we showed that combining immunohistochemistry analysis targeting NRAS(Q61R) and BRAF(V600E) proteins with molecular analysis was a reliable theranostic tool to face challenging samples of melanoma.
|
26204954 |
2015 |
|
rs11554290
|
|
melanoma
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Inhibition of Wee1, AKT, and CDK4 underlies the efficacy of the HSP90 inhibitor XL888 in an in vivo model of NRAS-mutant melanoma.
|
23538902 |
2013 |
|
rs11554290
|
|
melanoma
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Inhibition of Wee1, AKT, and CDK4 underlies the efficacy of the HSP90 inhibitor XL888 in an in vivo model of NRAS-mutant melanoma.
|
23538902 |
2013 |
|
rs11554290
|
|
melanoma
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Inhibition of Wee1, AKT, and CDK4 underlies the efficacy of the HSP90 inhibitor XL888 in an in vivo model of NRAS-mutant melanoma.
|
23538902 |
2013 |
|
rs11554290
|
|
melanoma
|
C |
0.800 |
CausalMutation
|
CLINVAR |
MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study.
|
23414587 |
2013 |
|
rs11554290
|
|
melanoma
|
A |
0.800 |
CausalMutation
|
CLINVAR |
MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study.
|
23414587 |
2013 |
|
rs11554290
|
|
melanoma
|
G |
0.800 |
CausalMutation
|
CLINVAR |
MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study.
|
23414587 |
2013 |
|
rs11554290
|
|
melanoma
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation.
|
21107323 |
2010 |
|
rs11554290
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48% Q61K, 40% Q61R) of metastatic melanomas, respectively.
|
23855428 |
2013 |
|
rs11554290
|
|
melanoma
|
G |
0.800 |
CausalMutation
|
CLINVAR |
N-ras mutations in human cutaneous melanoma from sun-exposed body sites.
|
2674680 |
1989 |