rs121913254, NRAS

N. diseases: 31
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adult Diffuse Large B-Cell Lymphoma
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in three germinal center diffuse large B-cell lymphomas, K601N in two germinal center diffuse large B-cell lymphomas, and V600E in one non-germinal center diffuse large B-cell lymphoma) and of the NRAS gene in two (8%) non-germinal center diffuse large B-cell lymphomas (Q61K and Q61H). 22575864 2012
Benign melanocytic nevus
CUI: C1456781
Disease: Benign melanocytic nevus
0.010 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
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.010 GeneticVariation BEFREE However, in human non-small-cell lung carcinoma H1299 cells harboring N-Ras Q61K oncogenic mutation and p53 deletion, overexpression of Nm23H1 did not affect tumorigenesis in nude mice assays, while overexpression of Nm23H2 enhanced tumor growth with elevated expression of the c-Myc proto-oncogene. 25748386 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.010 GeneticVariation BEFREE Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. 23400451 2013
Congenital naevus
CUI: C1306726
Disease: Congenital naevus
0.010 GeneticVariation BEFREE A mutation in the Cdon gene potentiates congenital nevus development mediated by NRAS(Q61K). 27155367 2016
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in three germinal center diffuse large B-cell lymphomas, K601N in two germinal center diffuse large B-cell lymphomas, and V600E in one non-germinal center diffuse large B-cell lymphoma) and of the NRAS gene in two (8%) non-germinal center diffuse large B-cell lymphomas (Q61K and Q61H). 22575864 2012
Follicular Variant Thyroid Gland Papillary Carcinoma
0.010 GeneticVariation BEFREE Overall, 13 cases (46%) harbored RAS mutations, including seven (25%) with NRAS mutations (p.Gln61Arg) and six (21%) with HRAS mutations (five had p.Gln61Arg and one had a p.Gln61Lys substitution).No PE/WC FVPTCs had BRAF mutations. 23477374 2013
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
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
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.010 GeneticVariation BEFREE In seven out of 11 NRAS(Q61K) (/R)-mutated pulmonary LCH lesions, BRAF(V600) (E) mutations were also present. 27076591 2016
Lymphoma, T-Cell, Cutaneous
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
0.010 GeneticVariation BEFREE One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome and one CD30(+) CTCL harbored a NRAS(Q61K) amino acid change. 21209378 2011
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. 23400451 2013
Malignant neoplasm of soft tissue
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
0.010 GeneticVariation BEFREE We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant proteins. 23382236 2013
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
0.010 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 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 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 CausalMutation CLINVAR Distinct sets of genetic alterations in melanoma. 16291983 2005
melanoma
CUI: C0025202
Disease: melanoma
0.780 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680 1989
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 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 CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
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 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
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