Varaico: Literature-Extracted Genetic Variants

Gene:ALK
Variant:p.R1275Q
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ALK

NM_004304.5:p.R1275Q

Associated Papers

Novel activating SNRNP70-ALK fusion in congenital infant-type hemispheric glioma displays clinical response to lorlatinib: a case-report.

Arthur C et al.

Npj Precision Oncology, 2026

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

Oh HC et al.

Genome Biology, 2026

Molecular Features Associated with a High-Risk Clinical Course in Neuroblastomas Initially Diagnosed as Non-High-Risk.

Bruinsma RS et al.

Cancers, 2026

Preclinical characterization and first-in-human, phase I trial of the novel ALK inhibitor dirozalkib in advanced non-small cell lung cancer.

Ai X et al.

European Journal of Cancer (oxford, England : 1990), 2026

Harmonization of Reporting of ALK Genetic Alterations in Neuroblastoma: A SIOPEN Biology Study.

Saint-Charles A et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

Targeted DNA Sequencing for Tailored Therapies in Children with Extracranial Solid Tumors.

Andreeva NA et al.

International Journal of Molecular Sciences, 2025

Defining the functional role and potential as an immunotherapeutic target of ALCAM in neuroblastoma.

Lindsay J et al.

Molecular Cancer Therapeutics, 2025

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

Feasibility of a ctDNA multigenic panel for non-small-cell lung cancer early detection and disease surveillance.

Casagrande GMS et al.

Molecular Oncology, 2025

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

Detection of Targetable Genetic Abnormalities in Neuroblastoma Circulating Tumour DNA.

Danilenko M et al.

International Journal of Molecular Sciences, 2025

Kinome Reprogramming of G2/M Kinases and Repression of MYCN Contribute to Superior Efficacy of Lorlatinib in ALK-Driven Neuroblastoma.

Matkar S et al.

Molecular Cancer Therapeutics, 2025

A humanized anaplastic lymphoma kinase (ALK)-directed antibody-drug conjugate with pyrrolobenzodiazepine payload demonstrates efficacy in ALK-expressing cancers.

Guerra AD et al.

Nature Communications, 2025

40813394 (PubMed )
Supplement: 41467_2025_62979_MOESM4_ESM.xlsx › Figure_2B

Genetic mechanisms of resistance to targeted KRAS inhibition.

Diaz BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

40799582 (PubMed )
Supplement: media-3.xlsx › Table_S1B

Improving Global Access to Genomic Profiling in Rare Pediatric Cancers.

Farouk Sait S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_7_MHC_I_binding_prediction.xlsx › Sheet1_human_validated

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.

Das K et al.

Scientific Reports, 2025

40593313 (PubMed )
Supplement: 41598_2025_8039_MOESM1_ESM.xlsx › Supplementary_Table_S6

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

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Matrical Tumors: A Comparative Molecular Analysis of Six Cases With Histological Correlations.

Ronen S et al.

The American Journal of Dermatopathology, 2025

Discovery and preclinical evaluations of drug candidate DA-0157 capable of overcoming EGFR drug-resistant mutation C797S and EGFR/ALK co-mutations.

He P et al.

European Journal of Medicinal Chemistry, 2025

Amino Acid Metabolism Subtypes in Neuroblastoma Identifying Distinct Prognosis and Therapeutic Vulnerabilities.

Zhou X et al.

Journal of Proteome Research, 2025

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_2_suppst2.xlsx › Sheet1

15 Years Old ALK Gene from Birth to Adolescence; Where to in NBL.

Elmenawi S et al.

Current Oncology Reports, 2025

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

Multiplexed in vivo base editing identifies functional gene-variant-context interactions.

Acosta J et al.

Biorxiv : the Preprint Server for Biology, 2025

40060482 (PubMed )
Supplement: media-4.xlsx › Table_S2A

Serially Quantifying TERT Rearrangement Breakpoints in ctDNA Enables Minimal Residual Disease Monitoring in Patients with Neuroblastoma.

Hollander JF et al.

Cancer Research Communications, 2025

An in silico evaluation of lorlatinib as a potential therapy for novel amino acid substitutions in the tyrosine kinase domain of the ALK protein associated with cancer.

Zapata Dongo RJ et al.

Frontiers in Pharmacology, 2025

Simultaneous occurrence of bilateral retroperitoneal neuroblastoma and bifocal malignant mixed germ cell tumor in a pediatric patient with 16p11.2 microdeletion syndrome: a case report.

Fan QX et al.

Frontiers in Endocrinology, 2025

Defining neuroblastoma: From origin to precision medicine.

Sainero-Alcolado L et al.

Neuro-oncology, 2024

NVL-655 Is a Selective and Brain-Penetrant Inhibitor of Diverse ALK-Mutant Oncoproteins, Including Lorlatinib-Resistant Compound Mutations.

Lin JJ et al.

Cancer Discovery, 2024

Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature.

Maya-González C et al.

American Journal of Medical Genetics. Part A, 2024

Personalized circulating tumor DNA analysis for sensitive disease monitoring and detection of relapse in neuroblastoma.

Rahmqvist I et al.

Biomarker Research, 2024

The Impact of Genetic Mutations on the Efficacy of Immunotherapies in Lung Cancer.

Lui K et al.

International Journal of Molecular Sciences, 2024

Repurposing of c-MET Inhibitor Tivantinib Inhibits Pediatric Neuroblastoma Cellular Growth.

Chilamakuri R et al.

Pharmaceuticals (basel, Switzerland), 2024

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

39095584 (PubMed )
Supplement: 41388_2024_3105_MOESM2_ESM.xlsx › Supplementary_Table_S6

Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.

Seo ES et al.

Nature Communications, 2024

39333105 (PubMed )
Supplement: 41467_2024_52128_MOESM4_ESM.xlsx › Supple_Data3_TARGET_CPG_list

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

Long-Lasting Response to Lorlatinib in Patients with ALK-Driven Relapsed or Refractory Neuroblastoma Monitored with Circulating Tumor DNA Analysis.

Ek T et al.

Cancer Research Communications, 2024

1–50 of 418 papers
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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."