Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11554290
rs11554290
0.800 GeneticVariation BEFREE Reciprocally, overexpression of C-MYC in normal melanocytes suppressed BRAF(V600E)-induced senescence more efficiently than NRAS(Q61R)-induced senescence, which agrees with the generally higher rates of activating mutations in BRAF than NRAS gene in human cutaneous me</span>lanomas. 18679422

2008

dbSNP: rs11554290
rs11554290
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

dbSNP: rs11554290
rs11554290
C 0.800 CausalMutation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304

2013

dbSNP: rs11554290
rs11554290
A 0.800 CausalMutation CLINVAR RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. 20179705

2010

dbSNP: rs11554290
rs11554290
0.800 GeneticVariation BEFREE The activating NRAS p.Q61R variant is a known "hotspot" variant, frequently identified in several types of human cancer, especially melanoma. 30542204

2019

dbSNP: rs11554290
rs11554290
G 0.800 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989

dbSNP: rs11554290
rs11554290
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

dbSNP: rs11554290
rs11554290
0.800 GeneticVariation BEFREE We have evaluated five real-time ARMS assays: BRAF 1799T>A, [this includes V600E and V600K] and NRAS 182A>G [Q61R] and 181C>A [Q61K] in melanoma, EGFR 2573T>G [L858R], 2235-2249del15 [E746-A750del] in non-small-cell lung cancer, and compared the results to DNA sequencing of the mutation 'hot-spots' in these genes in formalin-fixed paraffin-embedded tumour (FF-PET) DNA. 20925915

2010

dbSNP: rs11554290
rs11554290
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

dbSNP: rs11554290
rs11554290
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

dbSNP: rs11554290
rs11554290
0.800 GeneticVariation BEFREE We observed an increase in NRAS mutant allele percentage (NRAS-MA%) in the metastatic melanoma progression from 2 patients with melanomas harbouring a NRAS mutation (p.Q61K in case 1 and p.Q61R in case 2). 26990546

2016

dbSNP: rs11554290
rs11554290
G 0.800 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576

2010

dbSNP: rs11554290
rs11554290
A 0.800 CausalMutation CLINVAR Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. 18390968

2008

dbSNP: rs11554290
rs11554290
0.800 GeneticVariation BEFREE We investigated the associations between BRAF(V600E) and NRAS(Q61R) mutations and known risk factors, clinicopathologic characteristics and clinical outcomes of melanoma in a case series of primary invasive cutaneous melanoma from the Nurses' Health Study (NHS). 25048604

2014

dbSNP: rs11554290
rs11554290
C 0.800 CausalMutation CLINVAR RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. 20179705

2010

dbSNP: rs11554290
rs11554290
C 0.800 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576

2010

dbSNP: rs11554290
rs11554290
A 0.800 CausalMutation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304

2013

dbSNP: rs11554290
rs11554290
C 0.800 CausalMutation CLINVAR Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. 21107323

2010

dbSNP: rs11554290
rs11554290
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

dbSNP: rs11554290
rs11554290
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

dbSNP: rs11554290
rs11554290
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

dbSNP: rs11554290
rs11554290
C 0.800 CausalMutation CLINVAR Distinct sets of genetic alterations in melanoma. 16291983

2005

dbSNP: rs11554290
rs11554290
A 0.800 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410

1994

dbSNP: rs11554290
rs11554290
C 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs11554290
rs11554290
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