Varaico: Literature-Extracted Genetic Variants

Gene:ABL1
Variant:p.E279K
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ABL1

NM_005157.6:p.E279K

Associated Papers

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc6.xlsx › Sheet_1

Comprehensive resistance profiling of chronic myeloid leukaemia associated ABL1 variants against five tyrosine kinase inhibitors using prime editing.

Jung Y et al.

Nature Biomedical Engineering, 2025

Significance of Somatic Mutation Profiling in CML Beyond BCR-ABL: A Retrospective Study of the Indian Population.

Chaudhary P et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025

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-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

BCR::ABL1 kinase domain mutation testing and clinical outcome in a nationwide chronic myeloid leukemia patient population.

Kockerols C et al.

European Journal of Haematology, 2023

Chronic myeloid leukemia kinase domain mutations: A retrospective descriptive study on the therapeutic and prognostic significance in patients at King Edward VIII Hospital, KwaZulu-Natal, South Africa.

Benjamin C et al.

Health Science Reports, 2023

Next-generation sequencing improves BCR-ABL1 mutation detection in Philadelphia chromosome-positive acute lymphoblastic leukaemia.

Soverini S et al.

British Journal of Haematology, 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

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

Novel Illumina-based next generation sequencing approach with one-round amplification provides early and reliable detection of BCR-ABL1 kinase domain mutations in chronic myeloid leukemia.

Romzova M et al.

British Journal of Haematology, 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

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

Etienne G et al.

Cancer Medicine, 2019

Outcomes of 219 chronic myeloid leukaemia patients with additional chromosomal abnormalities and/or tyrosine kinase domain mutations.

Xue M et al.

International Journal of Laboratory Hematology, 2019

Mutations Associated with Imatinib Mesylate Resistance - Review.

Linev AJ et al.

Folia Medica, 2018

Modelling ponatinib resistance in tyrosine kinase inhibitor-naïve and dasatinib resistant BCR-ABL1+ cell lines.

Lu L et al.

Oncotarget, 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

Recurrent chronic myeloid leukemia with t (9;22;16) (q34; q11; p13) treated by nilotinib: A case report.

Shu Y et al.

Medicine, 2018

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

MAGERI: Computational pipeline for molecular-barcoded targeted resequencing.

Shugay M et al.

Plos Computational Biology, 2017

Streamlined analysis of duplex sequencing data with Du Novo.

Stoler N et al.

Genome Biology, 2016

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

Compound mutations in BCR-ABL1 are not major drivers of primary or secondary resistance to ponatinib in CP-CML patients.

Deininger MW et al.

Blood, 2016

Detection of BCR-ABL1 mutations that confer tyrosine kinase inhibitor resistance using massively parallel, next generation sequencing.

Szankasi P et al.

Annals of Hematology, 2016

Axitinib effectively inhibits BCR-ABL1(T315I) with a distinct binding conformation.

Pemovska T et al.

Nature, 2015

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

Modeling the influence of stromal microenvironment in the selection of ENU-induced BCR-ABL1 mutants by tyrosine kinase inhibitors.

Aggoune D et al.

Oncoscience, 2014

Molecular characterization of de novo Philadelphia chromosome-positive acute myeloid leukemia.

Konoplev S et al.

Leukemia & Lymphoma, 2013

Three novel patient-derived BCR/ABL mutants show different sensitivity to second and third generation tyrosine kinase inhibitors.

Redaelli S et al.

American Journal of Hematology, 2012

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

Razga F et al.

Molecular Diagnosis & Therapy, 2012

BCR-ABL kinase domain mutations in tyrosine kinase inhibitors-naïve and -exposed Southeast Asian chronic myeloid leukemia patients.

Wongboonma W et al.

Experimental and Molecular Pathology, 2012

Poor response to second-line kinase inhibitors in chronic myeloid leukemia patients with multiple low-level mutations, irrespective of their resistance profile.

Parker WT et al.

Blood, 2012

Sensitive detection of BCR-ABL1 mutations in patients with chronic myeloid leukemia after imatinib resistance is predictive of outcome during subsequent therapy.

Parker WT et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2011

BCR-ABL1 mutations in patients with imatinib-resistant Philadelphia chromosome-positive leukemia by use of the PCR-Invader assay.

Ono T et al.

Leukemia Research, 2011

Molecular monitoring and mutation analysis of patients with advanced phase CML and Ph+ ALL receiving dasatinib.

Olsson-Strömberg U et al.

European Journal of Haematology, 2010

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

Schnittger S et al.

Genes, Chromosomes & Cancer, 2010

The Role of Mutation Testing in Patients with Chronic Myeloid Leukemia in Chronic Phase after Imatinib Failure and Their Outcomes after Treatment Modification: Single-institutional Experience Over 13 Years.

Chaitanya PK et al.

Indian Journal of Medical and Paediatric Oncology : Official Journal of Indian Society of Medical & Paediatric Oncology, 0

Mutations in the breakpoint cluster region-Abelson murine leukemia 1 gene in Brazilian patients with chronic myeloid leukemia.

Costa HZ et al.

Hematology, Transfusion and Cell Therapy, 0

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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."