Varaico: Literature-Extracted Genetic Variants

Gene:ABL1
Variant:p.L387M
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ABL1

NM_005157.6:p.L387M

Associated Papers

Next-generation sequencing from chronic myeloid leukemia dried blood spots: insights and implications for global oncology.

Oehler VG et al.

Leukemia, 2026

Innovative rapid screening for complex BCR-ABL1 kinase domain mutations in TKI-treated leukaemia patients.

Lan Y et al.

British Journal of Cancer, 2025

Somatic mutations and outcomes in chronic myeloid leukemia adolescent and young adults compared to children, adults, and BCR::ABL1-positive acute lymphoblastic leukemia.

Krizkova J et al.

Leukemia, 2025

40295826 (PubMed )
Supplement: 41375_2025_2609_MOESM1_ESM.pdf

Mutation of Epigenetic Regulators at Diagnosis Is an Independent Predictor of Tyrosine Kinase Inhibitor Treatment Failure in Chronic Myeloid Leukemia: A Report From the RESIDIAG Study.

Guerineau H et al.

American Journal of Hematology, 2025

39654506 (PubMed )
Supplement: supplement_1.pdf

A Novel Next-Generation Sequencing Assay for the Identification of BCR::ABL1 Transcript Type and Accurate and Sensitive Detection of TKI-Resistant Mutations.

Yan Z et al.

The Journal of Applied Laboratory Medicine, 2024

A Retrospective Analysis of BCR-ABL-1 Kinase Domain Mutations in Frontline TKI Resistant Chronic Myeloid Leukemia Patients: A Single Centre Experience.

Datta G et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024

Validation of a novel NGS based BCR::ABL1 kinase domain mutation detection assay in Indian cohort.

Chaudhary P et al.

Scientific Reports, 2024

A Retrospective Analysis of BCR-ABL1 Kinase Domain Mutations in the Frontline Drug Intolerant or Resistant Chronic Myeloid Leukemia Patients: An Indian Experience from a High-End Referral Laboratory.

Majumdar A et al.

South Asian Journal of Cancer, 2024

Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA.

Sánchez R et al.

Scientific Reports, 2022

Spectrum of BCR-ABL Mutations and Treatment Outcomes in Ethiopian Imatinib-Resistant Patients With Chronic Myeloid Leukemia.

Tadesse F et al.

Jco Global Oncology, 2021

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

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

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

Practical Laboratory Tools for Monitoring of BCR-ABL1 Transcripts and Tyrosine Kinase (TK) Domain Mutations in Chronic Myeloid Leukemia Patients Undergoing TK Inhibitor Therapy: A Single-Center Experience in Thailand.

Limsuwanachot N et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2020

Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Hamid AB et al.

Cancers, 2020

32283832 (PubMed )
Supplement: cancers-12-00927-s001.pdf

Prospective assessment of NGS-detectable mutations in CML patients with nonoptimal response: the NEXT-in-CML study.

Soverini S et al.

Blood, 2020

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Resistance-ABL1

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Incidence and outcome of BCR-ABL mutated chronic myeloid leukemia patients who failed to tyrosine kinase inhibitors.

Etienne G et al.

Cancer Medicine, 2019

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM2_ESM.xlsx › Sheet1

Mutations Associated with Imatinib Mesylate Resistance - Review.

Linev AJ et al.

Folia Medica, 2018

Comparison of Frequency and Sensitivity of BCR-ABL1 Kinase Domain Mutations in Asian and White Patients With Imatinib-resistant Chronic-Phase Chronic Myeloid Leukemia.

Kim H et al.

Clinical Lymphoma, Myeloma & Leukemia, 2018

Clinical characteristics of patients with central nervous system relapse in BCR-ABL1-positive acute lymphoblastic leukemia: the importance of characterizing ABL1 mutations in cerebrospinal fluid.

Sanchez R et al.

Annals of Hematology, 2017

Contributions of MET activation to BCR-ABL1 tyrosine kinase inhibitor resistance in chronic myeloid leukemia cells.

Tsubaki M et al.

Oncotarget, 2017

28418880 (PubMed )
Supplement: oncotarget-08-38717-s001.pdf

The use of Imatinib resistance mutation analysis to direct therapy in Philadelphia chromosome/BCR-ABL1 positive chronic myeloid leukaemia patients failing Imatinib treatment, in Patan Hospital, Nepal.

Kayastha GK et al.

British Journal of Haematology, 2017

Next-generation sequencing for sensitive detection of BCR-ABL1 mutations relevant to tyrosine kinase inhibitor choice in imatinib-resistant patients.

Soverini S et al.

Oncotarget, 2016

26980736 (PubMed )
Supplement: oncotarget-07-21982-s001.pdf

Radotinib is an effective inhibitor of native and kinase domain-mutant BCR-ABL1.

Zabriskie MS et al.

Leukemia, 2015

Next-generation deep sequencing improves detection of BCR-ABL1 kinase domain mutations emerging under tyrosine kinase inhibitor treatment of chronic myeloid leukemia patients in chronic phase.

Machova Polakova K et al.

Journal of Cancer Research and Clinical Oncology, 2015

Evolution of BCR/ABL gene mutation in CML is time dependent and dependent on the pressure exerted by tyrosine kinase inhibitor.

Vaidya S et al.

Plos One, 2015

BCR-ABL1 compound mutations combining key kinase domain positions confer clinical resistance to ponatinib in Ph chromosome-positive leukemia.

Zabriskie MS et al.

Cancer Cell, 2014

BCR-ABL kinase domain mutations, including 2 novel mutations in imatinib resistant Malaysian chronic myeloid leukemia patients-Frequency and clinical outcome.

Elias MH et al.

Leukemia Research, 2014

Implications of BCR-ABL1 kinase domain-mediated resistance in chronic myeloid leukemia.

Soverini S et al.

Leukemia Research, 2014

Molecular analysis of the BCR-ABL1 kinase domain in chronic-phase chronic myelogenous leukemia treated with tyrosine kinase inhibitors in practice: study by the Nagasaki CML Study Group.

Itonaga H et al.

Leukemia Research, 2014

BCR-ABL1 kinase domain mutation analysis in an Irish cohort of chronic myeloid leukemia patients.

McCarron SL et al.

Genetic Testing and Molecular Biomarkers, 2013

BCR-ABL1 compound mutations in tyrosine kinase inhibitor-resistant CML: frequency and clonal relationships.

Khorashad JS et al.

Blood, 2013

Role of treatment in the appearance and selection of BCR-ABL1 kinase domain mutations.

Razga F et al.

Molecular Diagnosis & Therapy, 2012

Chronic myeloid leukemia: clinical impact of BCR-ABL1 mutations and other lesions associated with disease progression.

Ernst T et al.

Seminars in Oncology, 2012

Associations between imatinib resistance conferring mutations and Philadelphia positive clonal cytogenetic evolution in CML.

Schnittger S et al.

Genes, Chromosomes & Cancer, 2010

Plasma tyrosine kinase activity as a potential biomarker in BCR-ABL1-targeted therapy.

Yeh CH et al.

Cancer Biomarkers : Section a of Disease Markers, 2010

Hierarchical modeling of activation mechanisms in the ABL and EGFR kinase domains: thermodynamic and mechanistic catalysts of kinase activation by cancer mutations.

Dixit A et al.

Plos Computational Biology, 2009

Comparison of mutated ABL1 and JAK2 as oncogenes and drug targets in myeloproliferative disorders.

Walz C et al.

Leukemia, 2008

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