Gene: ALK ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281864719
rs281864719
ALK
0.100 GeneticVariation BEFREE Furthermore, two human neuroblastoma cell lines harbouring the F1174L</span> mutation were also sensitive to the inhibitor. 18923525

2008
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
dbSNP: rs281864719
rs281864719
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: rs281864719
rs281864719
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 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: rs113994087
rs113994087
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: rs113994087
rs113994087
ALK
0.100 GeneticVariation BEFREE We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 NB specimens. 21940108

2011
dbSNP: rs281864719
rs281864719
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 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: rs1057519697
rs1057519697
ALK
0.010 GeneticVariation BEFREE We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 NB specimens. 21940108

2011
dbSNP: rs113994087
rs113994087
ALK
0.100 GeneticVariation BEFREE The R1275Q neuroblastoma mutant and certain ATP-competitive inhibitors stabilize alternative activation loop conformations of anaplastic lymphoma kinase. 22932897

2012
dbSNP: rs281864719
rs281864719
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: rs281864719
rs281864719
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 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: rs281864719
rs281864719
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 present the evidence that murine neural crest progenitor cells can give rise to neuroblastoma upon transformation with MYCN or ALK(F1174L). 22484425

2013
dbSNP: rs113994087
rs113994087
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: rs281864719
rs281864719
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: rs281864719
rs281864719
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: rs281864719
rs281864719
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 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