Gene: ALK ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225285
rs863225285
ALK
0.020 GeneticVariation BEFREE Our results show that the Y1278S mutant observed in patients with neuroblastoma harbors gain-of-function activity. 29084134

2017
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: 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 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 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 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 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: 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: 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: 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: 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: rs113994087
rs113994087
ALK
0.100 GeneticVariation BEFREE To study the contribution of ALK mutations in NB initiation and progression, we reprogrammed fibroblasts from two related NB patients carrying germline mutations in ALK (R1275Q) using non-integrating Sendai virus. 30605844

2019
dbSNP: rs113994087
rs113994087
ALK
0.100 GeneticVariation BEFREE Using both Sanger and targeted deep sequencing, this study describes the identification of distinct ALK mutations in these paired cell lines, including the rare R1275L mutation, which has not previously been reported in a neuroblastoma cell line. 27888620

2016
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 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 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 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