Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519697
rs1057519697
ALK
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE Alectinib was more effective than crizotinib in inhibiting <i>ALK</i> F1174C-expressing cell growth.<b>Conclusions:</b> These findings implicate <i>ALK</i>-activating mutations in SCCP pathogenesis and suggest the therapeutic potential of targeting <i>ALK</i> molecular alterations in some patients with SCCP.<i>Clin Cancer Res; 24(12); 2732-9.©2018 AACR</i>. 29559559

2018
dbSNP: rs1057519697
rs1057519697
ALK
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation BEFREE Alectinib was more effective than crizotinib in inhibiting <i>ALK</i> F1174C-expressing cell growth.<b>Conclusions:</b> These findings implicate <i>ALK</i>-activating mutations in SCCP pathogenesis and suggest the therapeutic potential of targeting <i>ALK</i> molecular alterations in some patients with SCCP.<i>Clin Cancer Res; 24(12); 2732-9.©2018 AACR</i>. 29559559

2018
dbSNP: rs1057519697
rs1057519697
ALK
CUI: C1300585
Disease: Small cell carcinoma of prostate
Small cell carcinoma of prostate 		0.010 GeneticVariation BEFREE Alectinib was more effective than crizotinib in inhibiting <i>ALK</i> F1174C-expressing cell growth.<b>Conclusions:</b> These findings implicate <i>ALK</i>-activating mutations in SCCP pathogenesis and suggest the therapeutic potential of targeting <i>ALK</i> molecular alterations in some patients with SCCP.<i></i>. 29559559

2018
dbSNP: rs1057519697
rs1057519697
ALK
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE <i>In vitro</i> prostate cell line/organoid models were generated by lentiviral-mediated expression of ALK and ALK F1174C and assessed for response to ALK inhibitors crizotinib and alectinib.<b>Results:</b> NGS analysis of the primary tumor and ctDNA of a 39-year-old patient with refractory SSCP identified <i>ALK</i> F1174C mutation. 29559559

2018
dbSNP: rs1057519697
rs1057519697
ALK
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Molecular dynamics simulations reveal the allosteric effect of F1174C resistance mutation to ceritinib in ALK-associated lung cancer. 27764703

2016
dbSNP: rs1057519697
rs1057519697
ALK
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 GeneticVariation BEFREE Molecular dynamics simulations reveal the allosteric effect of F1174C resistance mutation to ceritinib in ALK-associated lung cancer. 27764703

2016
dbSNP: rs1057519697
rs1057519697
ALK
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Molecular dynamics simulations reveal the allosteric effect of F1174C resistance mutation to ceritinib in ALK-associated lung cancer. 27764703

2016
dbSNP: rs1057519697
rs1057519697
ALK
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 GeneticVariation BEFREE We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 NB specimens. 21940108

2011
dbSNP: rs1057519697
rs1057519697
ALK
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 GeneticVariation BEFREE We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 NB specimens. 21940108

2011
dbSNP: rs1057519697
rs1057519697
ALK
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 GeneticVariation BEFREE We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 NB specimens. 21940108

2011