Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225281
rs863225281
ALK
0.100 GeneticVariation BEFREE Altogether, we report for the first time that the expression of the human ALK-F1174L mutation in NCCs during embryonic development profoundly disturbs early sympathetic progenitor differentiation, in addition to increasing their proliferation, both mechanisms being potential crucial events in NB oncogenesis. 31058082

2019

dbSNP: rs863225281
rs863225281
ALK
0.100 GeneticVariation BEFREE However, lethal neuroblastoma</span> frequently developed in mice co-expressing ALK F1174L and MYCN, even in a genetic background where MYCN alone does not cause overt tumors. 31218818

2019

dbSNP: rs863225281
rs863225281
ALK
0.100 GeneticVariation BEFREE Accordingly, the combination of the ALK/MET inhibitor crizotinib and selective HDAC8 inhibitors (3-6 µM PCI-34051 or 10 µM 20a) efficiently killed neuroblastoma cell lines carrying wildtype ALK (SK-N-BE(2)-C, IMR5/75), amplified ALK (NB-1), and those carrying the activating ALK F1174L mutation (Kelly), and, in cells carrying the activating R1275Q mutation (LAN-5), combination treatment decreased viable cell count. 29515255

2018

dbSNP: rs863225281
rs863225281
ALK
0.100 GeneticVariation BEFREE ALK inhibitor resistance in ALK(F1174L)-driven neuroblastoma is associated with AXL activation and induction of EMT. 26616860

2016

dbSNP: rs863225281
rs863225281
ALK
0.100 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

2015

dbSNP: rs863225281
rs863225281
ALK
0.100 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

dbSNP: rs863225281
rs863225281
ALK
0.100 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

2014

dbSNP: rs863225281
rs863225281
ALK
0.100 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

2014

dbSNP: rs863225281
rs863225281
ALK
0.100 GeneticVariation BEFREE Here we present the evidence that murine neural crest progenitor cells can give rise to neuroblastoma upon transformation with MYCN or ALK(F1174L). 22484425

2013

dbSNP: rs863225281
rs863225281
ALK
0.100 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

dbSNP: rs863225281
rs863225281
ALK
0.100 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

dbSNP: rs863225281
rs863225281
ALK
0.100 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

2011

dbSNP: rs863225281
rs863225281
ALK
0.100 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

dbSNP: rs863225281
rs863225281
ALK
0.100 GeneticVariation BEFREE The neuroblastoma-associated F1174L ALK mutation causes resistance to an ALK kinase inhibitor in ALK-translocated cancers. 21030459

2010

dbSNP: rs863225281
rs863225281
ALK
0.100 GeneticVariation BEFREE Furthermore, two human neuroblastoma cell lines harbouring the F1174L</span> mutation were also sensitive to the inhibitor. 18923525

2008