rs121913254, NRAS

N. diseases: 31
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.780 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
melanoma
CUI: C0025202
Disease: melanoma
0.780 GeneticVariation BEFREE Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively active RAS) or mutant activated CDK4(R24C/R24C) (prevents binding of CDK4 by kinase inhibitor p16(INK4A)) with an epidermis-specific knockout of the nuclear retinoid X receptor alpha (RXRα(ep-/-)) results in increased melanoma formation after chronic ultraviolet-B (UVB) irradiation compared with control mice with functional RXRα. 25189354 2015
melanoma
CUI: C0025202
Disease: melanoma
0.780 GeneticVariation BEFREE Nine cases presented concomitant BRAF and NRAS mutations, including one case in which both the melanoma and the adjacent naevus harboured V600E and Q61K double mutations. 25857817 2015
melanoma
CUI: C0025202
Disease: melanoma
0.780 GeneticVariation BEFREE In this study, we performed an integrative analysis of DNA methylation, gene expression, and microRNA expression data to identify potential regulatory pathways associated with the most common driver mutations in NRAS (Q61K/L/R) through comparison of NRASQ61-mutated melanomas with pan-negative melanomas. 25537510 2015
melanoma
CUI: C0025202
Disease: melanoma
0.780 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
melanoma
CUI: C0025202
Disease: melanoma
0.780 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
melanoma
CUI: C0025202
Disease: melanoma
0.780 CausalMutation CLINVAR Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors. 23614898 2013
melanoma
CUI: C0025202
Disease: melanoma
0.780 GeneticVariation BEFREE Strikingly, the administration of BI-69A11 inhibited melanoma development in genetically modified mice bearing an inducible form of activated Nras and a deletion of the Ink4a gene (Nras((Q61K)) ::Ink4a(-/-) ). 23035722 2013
melanoma
CUI: C0025202
Disease: melanoma
0.780 CausalMutation CLINVAR MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. 23414587 2013
melanoma
CUI: C0025202
Disease: melanoma
0.780 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
melanoma
CUI: C0025202
Disease: melanoma
0.780 CausalMutation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304 2013
melanoma
CUI: C0025202
Disease: melanoma
0.780 GeneticVariation CLINVAR We generated mutant BRAF(V600E) melanoma cells that exhibit resistance to PLX4720, the tool compound for vemurafenib, that co-expressed mutant (Q61K) NRAS. 23076151 2012
melanoma
CUI: C0025202
Disease: melanoma
0.780 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
melanoma
CUI: C0025202
Disease: melanoma
0.780 GeneticVariation BEFREE Molecular genetic analysis, including DNA sequencing and CGH, revealed that both areas contained an identical NRAS Q61K mutation and had highly similar CGH profiles, including gains of chromosome 1q and losses of 1p, 4, 9, and 10, which are archetypical of melanoma. 21836492 2011
melanoma
CUI: C0025202
Disease: melanoma
0.780 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
melanoma
CUI: C0025202
Disease: melanoma
0.780 CausalMutation CLINVAR RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. 20130576 2010
melanoma
CUI: C0025202
Disease: melanoma
0.780 CausalMutation CLINVAR RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. 20179705 2010
melanoma
CUI: C0025202
Disease: melanoma
0.780 GeneticVariation BEFREE In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute to melanoma's resistance to apoptosis in part by downregulating Bim expression, suggesting that Bim is a possible treatment target for overriding melanoma's inherent defenses against cell death. 18668139 2009
melanoma
CUI: C0025202
Disease: melanoma
0.780 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
melanoma
CUI: C0025202
Disease: melanoma
0.780 CausalMutation CLINVAR Distinct sets of genetic alterations in melanoma. 16291983 2005
melanoma
CUI: C0025202
Disease: melanoma
0.780 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410 1994
melanoma
CUI: C0025202
Disease: melanoma
0.780 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680 1989
GIANT PIGMENTED HAIRY NEVUS
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
0.700 GeneticVariation UNIPROT Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. 23392294 2013
Neurocutaneous melanosis
CUI: C0544862
Disease: Neurocutaneous melanosis
0.700 GeneticVariation UNIPROT Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. 23392294 2013
GIANT PIGMENTED HAIRY NEVUS
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
0.700 GeneticVariation UNIPROT Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. 18633438 2009