Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519783
rs1057519783
ALK
0.040 GeneticVariation BEFREE Non-small-cell lung cancer (NSCLC) patients harboring ALK or ROS1 rearrangements invariably acquire resistance to the first- and second-generation tyrosine kinase inhibitors (TKIs), most notably ALK G1202R and ROS1 G2032R. 30683630

2019

dbSNP: rs1057519783
rs1057519783
ALK
0.040 GeneticVariation BEFREE These results demonstrated how the mutated residues tune the crizotinib response and may assist kinase inhibitor development especially for ALK G1202R, analogous to the ROS1 G2302R and MET G1163R mutations that are also resistant to crizotinib treatment in NSCLC. 31388026

2019

dbSNP: rs1057519783
rs1057519783
ALK
0.040 GeneticVariation BEFREE We also discovered four novel somatic ALK mutations in NSCLC (T1151R, R1192P, A1280V, and L1535Q) that confer primary resistance; all of them showed strong resistance to ALK inhibitors, as G1202R does. 28741662

2017

dbSNP: rs1057519783
rs1057519783
ALK
0.040 GeneticVariation BEFREE Next-generation sequencing reveals a Novel NSCLC ALK F1174V mutation and confirms ALK G1202R mutation confers high-level resistance to alectinib (CH5424802/RO5424802) in ALK-rearranged NSCLC patients who progressed on crizotinib. 24736079

2014

dbSNP: rs1057519698
rs1057519698
ALK
0.030 GeneticVariation BEFREE Identification of I1171N resistance mutation in ALK-positive non-small-cell lung cancer tumor sample and circulating tumor DNA. 27565911

2016

dbSNP: rs1057519698
rs1057519698
ALK
0.030 GeneticVariation BEFREE I1171 missense mutation (particularly I1171N) is a common resistance mutation in ALK-positive NSCLC patients who have progressive disease while on alectinib and is sensitive to ceritinib. 25736571

2015

dbSNP: rs1057519698
rs1057519698
ALK
0.030 GeneticVariation BEFREE Identification of a novel HIP1-ALK fusion variant in Non-Small-Cell Lung Cancer (NSCLC) and discovery of ALK I1171 (I1171N/S) mutations in two ALK-rearranged NSCLC patients with resistance to Alectinib. 25393796

2014

dbSNP: rs1057519784
rs1057519784
ALK
0.020 GeneticVariation BEFREE Exploring the crizotinib resistance mechanism of NSCLC with the L1196M mutation using molecular dynamics simulation. 29067524

2017

dbSNP: rs281864719
rs281864719
ALK
0.020 GeneticVariation BEFREE F1174V mutation alters the ALK active conformation in response to Crizotinib in NSCLC: Insight from molecular simulations. 28622610

2017

dbSNP: rs1057519784
rs1057519784
ALK
0.020 GeneticVariation BEFREE Alectinib is a new generation ALK inhibitor with activity against the gatekeeper L1196M mutation that showed remarkable activity in a phase I/II study with echinoderm microtubule associated protein-like 4 (EML4)--anaplastic lymphoma kinase (ALK) non-small cell lung cancer (NSCLC) patients. 24952482

2014

dbSNP: rs281864719
rs281864719
ALK
0.020 GeneticVariation BEFREE Here, we identified a novel secondary acquired NSCLC ALK F1174V mutation by comprehensive next-generation sequencing in one ALK+ NSCLC patient who progressed on crizotinib after a prolonged partial response to crizotinib. 24736079

2014

dbSNP: rs113994088
rs113994088
ALK
0.010 GeneticVariation BEFREE We identified a novel acquired NSCLC ALK G1128A mutation in the ALK + NSCLC patient who progressed on crizotinib after a short partial response to the drug. 30089600

2018

dbSNP: rs113994091
rs113994091
ALK
0.010 GeneticVariation BEFREE We also discovered four novel somatic ALK mutations in NSCLC (T1151R, R1192P, A1280V, and L1535Q) that confer primary resistance; all of them showed strong resistance to ALK inhibitors, as G1202R does. 28741662

2017

dbSNP: rs751306825
rs751306825
ALK
0.010 GeneticVariation BEFREE A recent study reported the newest generation inhibitor resistant mutation L1198F led to the resensitization to crizotinib, which is the first Food and Drug Administration (FDA) approved drug for the treatment of ALK-positive NSCLC. 28245558

2017

dbSNP: rs1057519781
rs1057519781
ALK
0.010 GeneticVariation BEFREE The clinical efficacy of alectinib against a NSCLC patient harboring ALK G1269A mutation was evaluated in the phase I part of the North American study. 26849637

2016

dbSNP: rs863225283
rs863225283
ALK
0.010 GeneticVariation BEFREE Here we described the emergence of an ALK F1245C mutation in an advanced ALK+ NSCLC patient (EML4-ALK variant 3a/b) who developed slow disease progression after a durable response to crizotinib. 26775591

2016

dbSNP: rs958335893
rs958335893
ALK
0.010 GeneticVariation BEFREE We present a case report of a patient with NSCLC and the BRAF G469R mutation who showed a dramatic response to sorafenib. 26237499

2015

dbSNP: rs550608288
rs550608288
ALK
0.010 GeneticVariation BEFREE Low frequency KRAS active (G12R) and EGFR kinase domain mutations (G719A) were identified in one NSCLC patient. 24200637

2014