Varaico: Literature-Extracted Genetic Variants

Gene:ALK
Variant:p.R1192P
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ALK

NM_004304.5:p.R1192P

Associated Papers

A comprehensive functional atlas of ALK kinase domain variants reveals resistance landscape to ALK inhibitors.

Oh HC et al.

Genome Biology, 2026

Therapeutic potential of lorlatinib in ALK-mutated metastatic paraganglioma: Insights from clinical case report and literature review.

Nigro MC et al.

Critical Reviews in Oncology/hematology, 2025

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

Durable response with mutation-guided ALK inhibition in a patient with metastatic epithelioid inflammatory myofibroblastic sarcoma: A case report.

Chaudhry SS et al.

Rare Tumors, 2025

Defining neuroblastoma: From origin to precision medicine.

Sainero-Alcolado L et al.

Neuro-oncology, 2024

Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.

Nokchan N et al.

Journal of Personalized Medicine, 2024

39338204 (PubMed )
Supplement: jpm-14-00950-s001.zip › Supplementary_Table_S5.xlsx › Supplementary_Table_S5.

Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.

Orlic-Milacic M et al.

Database : the Journal of Biological Databases and Curation, 2024

38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx

Targeting NRAS via miR-1304-5p or farnesyltransferase inhibition confers sensitivity to ALK inhibitors in ALK-mutant neuroblastoma.

Pucci P et al.

Nature Communications, 2024

38653965 (PubMed )
Supplement: 41467_2024_47771_MOESM3_ESM.pdf

Circulating tumor DNA reveals mechanisms of lorlatinib resistance in patients with relapsed/refractory ALK-driven neuroblastoma.

Berko ER et al.

Nature Communications, 2023

37147298 (PubMed )
Supplement: 41467_2023_38195_MOESM3_ESM.xlsx › Figs._1-4____Suppl._Figs._1_3_4

The landscape of actionable genomic alterations in lung adenocarcinomas in India.

Sharma R et al.

Frontiers in Genetics, 2023

A computational examination of the therapeutic advantages of fourth-generation ALK inhibitors TPX-0131 and repotrectinib over third-generation lorlatinib for NSCLC with ALK F1174C/L/V mutations.

Balasundaram A et al.

Frontiers in Molecular Biosciences, 2023

Classical ALK G1202R resistance mutation was identified in a lung adenocarcinoma patient with rare LOC388942-ALK fusion after sequential treatment with ALK-TKIs and anlotinib: a case report.

Zhai X et al.

Annals of Translational Medicine, 2022

Analysis of lorlatinib analogs reveals a roadmap for targeting diverse compound resistance mutations in ALK-positive lung cancer.

Shiba-Ishii A et al.

Nature Cancer, 2022

Durable Clinical Response to ALK Tyrosine Kinase Inhibitors in Epithelioid Inflammatory Myofibroblastic Sarcoma Harboring PRRC2B-ALK Rearrangement: A Case Report.

Wang Z et al.

Frontiers in Oncology, 2022

Early identification of disease progression in ALK-rearranged lung cancer using circulating tumor DNA analysis.

Angeles AK et al.

Npj Precision Oncology, 2021

34876698 (PubMed )
Supplement: 41698_2021_239_MOESM1_ESM.pdf

Exceptional response to the ALK and ROS1 inhibitor lorlatinib and subsequent mechanism of resistance in relapsed ALK F1174L-mutated neuroblastoma.

Liu T et al.

Cold Spring Harbor Molecular Case Studies, 2021

Sustained response to brigatinib in a patient with refractory metastatic pheochromocytoma harboring R1192P anaplastic lymphoma kinase mutation: a case report from the Austrian Group Medical Tumor Therapy next-generation sequencing registry and discussion of the literature.

Heregger R et al.

Esmo Open, 2021

Earlier extracranial progression and shorter survival in ALK-rearranged lung cancer with positive liquid rebiopsies.

Christopoulos P et al.

Translational Lung Cancer Research, 2021

34164264 (PubMed )
Supplement: tlcr-10-05-2118-supplementary.pdf

Computational studies of anaplastic lymphoma kinase mutations reveal common mechanisms of oncogenic activation.

Patil K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Molecular Epidemiology of the Main Druggable Genetic Alterations in Non-Small Cell Lung Cancer.

Fois SS et al.

International Journal of Molecular Sciences, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Longitudinal therapy monitoring of ALK-positive lung cancer by combined copy number and targeted mutation profiling of cell-free DNA.

Dietz S et al.

Ebiomedicine, 2020

33161228 (PubMed )
Supplement: mmc1.pdf

Nervous system: Embryonal tumors: Neuroblastoma.

Pudela C et al.

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2020

Overcoming resistance by ALK compound mutation (I1171S + G1269A) after sequential treatment of multiple ALK inhibitors in non-small cell lung cancer.

Takahashi K et al.

Thoracic Cancer, 2020

Computational algorithms for in silico profiling of activating mutations in cancer.

Jordan EJ et al.

Cellular and Molecular Life Sciences : Cmls, 2019

ALK Resistance Mutations and Efficacy of Lorlatinib in Advanced Anaplastic Lymphoma Kinase-Positive Non-Small-Cell Lung Cancer.

Shaw AT et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2019

Targeting anaplastic lymphoma kinase in neuroblastoma.

Umapathy G et al.

Apmis : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica, 2019

Utility of the JAX Clinical Knowledgebase in capture and assessment of complex genomic cancer data.

Patterson SE et al.

Npj Precision Oncology, 2019

Reviving B-Factors: Activating ALK Mutations Increase Protein Dynamics of the Unphosphorylated Kinase.

Johnson TW et al.

Acs Medicinal Chemistry Letters, 2018

Clinical response of the novel activating ALK-I1171T mutation in neuroblastoma to the ALK inhibitor ceritinib.

Guan J et al.

Cold Spring Harbor Molecular Case Studies, 2018

Dramatic Response to Lorlatinib in a Heavily Pretreated Lung Adenocarcinoma Patient Harboring G1202R Mutation and a Synchronous Novel R1192P ALK Point Mutation.

Baglivo S et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2018

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 3

The ALK receptor in sympathetic neuron development and neuroblastoma.

Janoueix-Lerosey I et al.

Cell and Tissue Research, 2018

Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Gudernova I et al.

Oncotarget, 2017

29312610 (PubMed )
Supplement: oncotarget-08-109319-s003.docx

Identification of the genetic and clinical characteristics of neuroblastomas using genome-wide analysis.

Uryu K et al.

Oncotarget, 2017

29296183 (PubMed )
Supplement: oncotarget-08-107513-s001.pdf

Molecular breakdown: a comprehensive view of anaplastic lymphoma kinase (ALK)-rearranged non-small cell lung cancer.

Noh KW et al.

The Journal of Pathology, 2017

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

The ALK inhibitor PF-06463922 is effective as a single agent in neuroblastoma driven by expression of ALK and MYCN.

Guan J et al.

Disease Models & Mechanisms, 2016

TKI sensitivity patterns of novel kinase-domain mutations suggest therapeutic opportunities for patients with resistant ALK+ tumors.

Amin AD et al.

Oncotarget, 2016

Anaplastic Lymphoma Kinase as a Cancer Target in Pediatric Malignancies.

Mossé YP

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

Evidence Suggesting That Discontinuous Dosing of ALK Kinase Inhibitors May Prolong Control of ALK+ Tumors.

Amin AD et al.

Cancer Research, 2015

ALK mutations confer differential oncogenic activation and sensitivity to ALK inhibition therapy in neuroblastoma.

Bresler SC et al.

Cancer Cell, 2014

High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma.

Romania P et al.

Plos One, 2013

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome.

Bourdeaut F et al.

European Journal of Human Genetics : Ejhg, 2012

Activating ALK mutations found in neuroblastoma are inhibited by Crizotinib and NVP-TAE684.

Schönherr C et al.

The Biochemical Journal, 2011

Oncogenic anaplastic lymphoma kinase (ALK) mutation in neuroblastomas and other pediatric tumors.

Kwon MJ et al.

Pathology, Research and Practice, 2011

Emerging importance of ALK in neuroblastoma.

Azarova AM et al.

Seminars in Cancer Biology, 2011

Germline gain-of-function mutations of ALK disrupt central nervous system development.

de Pontual L et al.

Human Mutation, 2011

Crystal structure of the ALK (anaplastic lymphoma kinase) catalytic domain.

Lee CC et al.

The Biochemical Journal, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."