Varaico: Literature-Extracted Genetic Variants

Gene:ALK
Variant:p.Y1278S
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ALK

NM_004304.5:p.Y1278S

Associated Papers

Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.

Mok JW et al.

Genome Research, 2025

40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1

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

Sequential Analysis of cfDNA Reveals Clonal Evolution in Patients with Neuroblastoma Receiving ALK-Targeted Therapy.

Bobin C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

ALK signaling primes the DNA damage response sensitizing ALK-driven neuroblastoma to therapeutic ATR inhibition.

Borenäs M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38154064 (PubMed )
Supplement: pnas.2315242121.sapp.pdf

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

Therapeutic Targeting of ALK in Neuroblastoma: Experience of Italian Precision Medicine in Pediatric Oncology.

Pastorino F et al.

Cancers, 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

Patient-associated mutations in Drosophila Alk perturb neuronal differentiation and promote survival.

Pfeifer K et al.

Disease Models & Mechanisms, 2022

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Neuroblastoma Formation Requires Unconventional CD4 T Cells and Arginase-1-Dependent Myeloid Cells.

Van de Velde LA et al.

Cancer Research, 2021

Defects in 8-oxo-guanine repair pathway cause high frequency of C > A substitutions in neuroblastoma.

van den Boogaard ML et al.

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

34479993 (PubMed )
Supplement: pnas.2007898118.sapp.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

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

Activity of Crizotinib in Patients with ALK-Aberrant Relapsed/Refractory Neuroblastoma: A Children's Oncology Group Study (ADVL0912).

Foster JH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

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

ALK ligand ALKAL2 potentiates MYCN-driven neuroblastoma in the absence of ALK mutation.

Borenäs M et al.

The Embo Journal, 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

Mutation-mediated influences on binding of anaplastic lymphoma kinase to crizotinib decoded by multiple replica Gaussian accelerated molecular dynamics.

Chen J et al.

Journal of Computer-aided Molecular Design, 2020

Efficacy of Lorlatinib in Primary Crizotinib-Resistant Adult Neuroblastoma Harboring ALK Y1278S Mutation.

Vasseur A et al.

Jco Precision Oncology, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

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

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

Conformational Transition of Key Structural Features Involved in Activation of ALK Induced by Two Neuroblastoma Mutations and ATP Binding: Insight from Accelerated Molecular Dynamics Simulations.

He MY et al.

Acs Chemical Neuroscience, 2018

Novel Mechanisms of ALK Activation Revealed by Analysis of the Y1278S Neuroblastoma Mutation.

Guan J et al.

Cancers, 2017

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

MultiDimensional ClinOmics for Precision Therapy of Children and Adolescent Young Adults with Relapsed and Refractory Cancer: A Report from the Center for Cancer Research.

Chang W et al.

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

Mutation-Independent Activation of the Anaplastic Lymphoma Kinase in Neuroblastoma.

Regairaz M et al.

The American Journal of Pathology, 2016

Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations.

Eleveld TF et al.

Nature Genetics, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

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

Bresler SC et al.

Cancer Cell, 2014

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

Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification.

De Brouwer S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010

Crystal structures of anaplastic lymphoma kinase in complex with ATP competitive inhibitors.

Bossi RT et al.

Biochemistry, 2010

Genetics and genomics of neuroblastoma.

Capasso M et al.

Cancer Treatment and Research, 2010

Anaplastic lymphoma kinase: signalling in development and disease.

Palmer RH et al.

The Biochemical Journal, 2009

Anaplastic lymphoma kinase: role in cancer pathogenesis and small-molecule inhibitor development for therapy.

Webb TR et al.

Expert Review of Anticancer Therapy, 2009

Identification of ALK Mutation in Neuroblastoma on the Point of Molecular Heterogeneity.

Aktaş TÇ et al.

Technology in Cancer Research & Treatment, 0

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