Varaico: Literature-Extracted Genetic Variants

Gene:ALK
Variant:p.F1245V
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ALK

NM_004304.5:p.F1245V

Associated Papers

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

A comprehensive database for identifying and interpreting ctDNA driver genes and variants in cancer.

Wang Y et al.

Scientific Data, 2025

40670358 (PubMed )
Supplement: 41597_2025_5550_MOESM1_ESM.xls › Table_S5

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

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

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.

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

39177282 (PubMed )
Supplement: crc-24-0338_supplementary_information_suppsi.docx

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

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

Berko ER et al.

Nature Communications, 2023

Genomic ALK alterations in primary and relapsed neuroblastoma.

Rosswog C et al.

British Journal of Cancer, 2023

36807339 (PubMed )
Supplement: 41416_2023_2208_MOESM1_ESM.pdf

Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Körber V et al.

Nature Genetics, 2023

36973454 (PubMed )
Supplement: 41588_2023_1332_MOESM4_ESM.xlsx › Supplementary_Table_2

Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Suthapot P et al.

Cancers, 2023

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Villani A et al.

Nature Cancer, 2023

36585449 (PubMed )
Supplement: 43018_2022_474_MOESM10_ESM.xlsx › Table_S5_-_Category_C_variants

Deciphering the Shared and Specific Drug Resistance Mechanisms of Anaplastic Lymphoma Kinase via Binding Free Energy Computation.

Yu Y et al.

Research (washington, D.c.), 2023

37342628 (PubMed )
Supplement: research.0170.f1.pdf

Multifocal Neuroblastoma and Central Hypoventilation in An Infant with Germline ALK F1174I Mutation.

Djos A et al.

Diagnostics (basel, Switzerland), 2022

Neuroblastoma Risk Assessment and Treatment Stratification with Hybrid Capture-Based Panel Sequencing.

Szymansky A et al.

Journal of Personalized Medicine, 2021

34442335 (PubMed )
Supplement: jpm-11-00691-s001.zip › S15-SNVs_routine_cohort.xlsx › SNVs_Bigcohort

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

Gilteritinib overcomes lorlatinib resistance in ALK-rearranged cancer.

Mizuta H et al.

Nature Communications, 2021

Differential Impact of ALK Mutations in Neuroblastoma.

O'Donohue T et al.

Jco Precision Oncology, 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

Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations.

Brady SW et al.

Nature Communications, 2020

Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Li J et al.

Journal of Translational Medicine, 2020

32738923 (PubMed )
Supplement: 12967_2020_2449_MOESM2_ESM.xlsx › Supplementary_Table_S1

Kinome multigenic panel identified novel druggable EPHB4-V871I somatic variant in high-risk neuroblastoma.

Andolfo I et al.

Journal of Cellular and Molecular Medicine, 2020

Drug resistance mechanisms in Japanese anaplastic lymphoma kinase-positive non-small cell lung cancer and the clinical responses based on the resistant mechanisms.

Yanagitani N et al.

Cancer Science, 2020

Neuroblastoma in Adolescents and Children Older than 10 Years: Unusual Clinicopathologic and Biologic Features.

McCarthy LC et al.

Journal of Pediatric Hematology/oncology, 2019

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

Jordan EJ et al.

Cellular and Molecular Life Sciences : Cmls, 2019

Targeting anaplastic lymphoma kinase in neuroblastoma.

Umapathy G et al.

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

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Expression of the Neuroblastoma-Associated ALK-F1174L Activating Mutation During Embryogenesis Impairs the Differentiation of Neural Crest Progenitors in Sympathetic Ganglia.

Vivancos Stalin L et al.

Frontiers in Oncology, 2019

The ALK receptor in sympathetic neuron development and neuroblastoma.

Janoueix-Lerosey I et al.

Cell and Tissue Research, 2018

Genetic susceptibility to neuroblastoma: current knowledge and future directions.

Ritenour LE et al.

Cell and Tissue Research, 2018

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Ma X et al.

Nature, 2018

29489755 (PubMed )
Supplement: NIHMS939556-supplement-Table_2-7.xlsx › TableS5

The role of brigatinib in crizotinib-resistant non-small cell lung cancer.

Mezquita L et al.

Cancer Management and Research, 2018

Tracking a CAD-ALK gene rearrangement in urine and blood of a colorectal cancer patient treated with an ALK inhibitor.

Siravegna G et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2017

Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Padovan-Merhar OM et al.

Plos Genetics, 2016

Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.

Lasorsa VA et al.

Oncotarget, 2016

27009842 (PubMed )
Supplement: oncotarget-07-21840-s004.xlsx › Supplementary_Table_3a
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