rs863225281, ALK

N. diseases: 9
Source: ALL
Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 GeneticVariation BEFREE A 77-gene ALK signature was established and successfully validated in primary neuroblastoma samples, in a neuroblastoma cell line with ALK(F1174L) and ALK(R1275Q) regulable overexpression constructs and in other ALKomas. 25805801 2016
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 GeneticVariation BEFREE We have shown that the combination of crizotinib and an inhibitor of downstream signaling induces a favorable response in transgenic mice bearing ALK(F1174L)/MYCN-positive neuroblastoma. 25228590 2015
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 GeneticVariation BEFREE The two most frequent mutations, ALK-F1174L and ALK-R1275Q, contribute to NB tumorigenesis in mouse models, and cooperate with MYCN in the oncogenic process. 24947326 2015
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 GeneticVariation BEFREE Intrinsic susceptibility-MRI could thus potentially provide a non-invasive and clinically-exploitable method to help identifying children with MYCN-driven neuroblastoma harboring the ALK(F1174L) mutation at the time of diagnosis. 24667968 2014
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 GeneticVariation BEFREE We have selected seven ALK mutants identified in cell lines representative of a variety of human cancers based on position within the ALK protein, zygosity and frequency of detection including R1192Q, K1525E, C1021Y, R412C, A1252V, D1311A, K1518N and have compared their transformation capability in comparison to the published neuroblastoma-associated F1174L ALK mutant when expressed in immortalized p53(-/-) murine embryonic fibroblasts. 22086496 2013
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 GeneticVariation BEFREE Expression of MYCN or ALK(F1174L), one of the oncogenic ALK variants identified in primary neuroblastomas, enabled these cells to grow independently of c-MycER(T) activity in vitro and caused formation of neuroblastoma-like tumors in vivo in contrast to parental JoMa1 cells and JoMa1 cells-expressing TrkA or GFP. 22484425 2013
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 GeneticVariation BEFREE Targeted ALK(F1174L) and MYCN coexpression revealed a strong synergism in inducing neuroblastoma with minimal chromosomal aberrations, suggesting that fewer secondary hits are required for tumor induction if both oncoproteins are targeted. 22764207 2012
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 GeneticVariation BEFREE Here, we report similar basal patterns of ALK phosphorylation between the neuroblastoma IMR-32 cell line, which expresses only the wild-type receptor (ALK(WT)), and the SH-SY5Y cell line, which exhibits a heterozygous ALK F1174L mutation and expresses both ALK(WT) and ALK(F1174L) receptors. 22479414 2012
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 CausalMutation CLINVAR Differential inhibitor sensitivity of anaplastic lymphoma kinase variants found in neuroblastoma. 22072639 2012
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 CausalMutation CLINVAR ALK mutations conferring differential resistance to structurally diverse ALK inhibitors. 21948233 2012
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 GeneticVariation BEFREE The most frequent ALK mutations in neuroblastoma cause amino acid substitutions (F1174L and R1275Q) in the intracellular tyrosine kinase domain of the intact ALK receptor. 22072639 2012
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 CausalMutation CLINVAR Activating ALK mutations found in neuroblastoma are inhibited by Crizotinib and NVP-TAE684. 21838707 2012
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.800 GeneticVariation UNIPROT The constitutive activity of the ALK mutated at positions F1174 or R1275 impairs receptor trafficking. 21242967 2011
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 GeneticVariation BEFREE Similar oncogenic properties were observed in the neuroblastoma-associated ALK mutants K1062M and F1174L but not in wild-type ALK. 21596819 2011
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 CausalMutation CLINVAR CH5424802, a selective ALK inhibitor capable of blocking the resistant gatekeeper mutant. 21575866 2011
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 GeneticVariation BEFREE The neuroblastoma-associated F1174L ALK mutation causes resistance to an ALK kinase inhibitor in ALK-translocated cancers. 21030459 2011
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 GeneticVariation BEFREE Activating mutations within the full-length ALK kinase domain, most commonly R1275Q and F1174L, which play a major role in neuroblastoma, were recently identified. 20632993 2010
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 GeneticVariation BEFREE Short hairpin RNA (shRNA)-mediated knockdown of ALK expression in neuroblastoma cell lines with the F1174L mutation also resulted in apoptosis and impaired cell proliferation. 18923525 2008
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.800 CausalMutation CLINVAR Activating mutations in ALK provide a therapeutic target in neuroblastoma. 18923525 2008
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.800 GeneticVariation UNIPROT Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. 18923523 2008
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.800 GeneticVariation UNIPROT Activating mutations in ALK provide a therapeutic target in neuroblastoma. 18923525 2008
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.800 CausalMutation CLINVAR
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Co-clinical trials demonstrate superiority of crizotinib to chemotherapy in ALK-rearranged non-small cell lung cancer and predict strategies to overcome resistance. 24327273 2014
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Mechanisms of acquired crizotinib resistance in ALK-rearranged lung Cancers. 22277784 2012