Varaico: Literature-Extracted Genetic Variants

Gene:ABL1
Variant:p.H396R
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ABL1

NM_005157.6:p.H396R

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

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

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

Lan Y et al.

British Journal of Cancer, 2025

BCR::ABL1 kinase domain mutations and their predictive value for treatment outcomes in patients with chronic myeloid leukemia treated with first-line imatinib in a low-income setting: Experience from Côte d'Ivoire.

Koffi KG et al.

Leukemia Research Reports, 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

Impact of BCR::ABL1 single nucleotide variants on asciminib efficacy.

Innes AJ et al.

Leukemia, 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

Unstable major molecular response as a trigger for next generation sequencing-based BCR::ABL1 mutation testing in chronic myeloid leukemia.

Benesova A et al.

American Journal of Hematology, 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

Chronic myeloid leukemia with involvement of membranous labyrinth.

Kettani ME et al.

Leukemia Research Reports, 2024

Frequency and prognostic influence of ASXL1 mutations and its potential association with BCR-ABL1 transcript type and smoke in chronic myeloid leukemia patients.

Rafiq Mohammed A et al.

Gene, 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

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

Sánchez R et al.

Scientific Reports, 2022

35906470 (PubMed )
Supplement: 41598_2022_17271_MOESM2_ESM.pdf

The Dawn of Allosteric BCR-ABL1 Drugs: From a Phenotypic Screening Hit to an Approved Drug.

Teng M et al.

Journal of Medicinal Chemistry, 2022

Migrating to Long-Read Sequencing for Clinical Routine BCR-ABL1 TKI Resistance Mutation Screening.

Schaal W et al.

Cancer Informatics, 2022

Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing.

Easwar A et al.

Life (basel, Switzerland), 2021

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

BCR-ABL1 kinase domain mutation analysis by next generation sequencing detected additional mutations in chronic myeloid leukemia patients with suboptimal response to imatinib.

Benjamin ESB et al.

Leukemia & Lymphoma, 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

Mutations in the BCR-ABL1 kinase domain in patients with chronic myeloid leukaemia treated with TKIs or at diagnosis.

Liu J et al.

Oncology Letters, 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

Is high-risk cutaneous squamous cell carcinoma of the head and neck a suitable candidate for current targeted therapies?

Zilberg C et al.

Journal of Clinical Pathology, 2020

An Imatinib-non-responsive patient with an ABL Leu387Trp mutation achieves cytogenetic and molecular response under bosutinib: Case report and biological characterization.

Crespiatico I et al.

Clinical Case Reports, 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 › HR_Resistance

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

Mutational spectrum of tobacco associated oral squamous carcinoma and its therapeutic significance.

Batta N et al.

World Journal of Surgical Oncology, 2019

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Combining the Allosteric Inhibitor Asciminib with Ponatinib Suppresses Emergence of and Restores Efficacy against Highly Resistant BCR-ABL1 Mutants.

Eide CA et al.

Cancer Cell, 2019

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

Etienne G et al.

Cancer Medicine, 2019

BCR-ABL1 tyrosine kinase inhibitor K0706 exhibits preclinical activity in Philadelphia chromosome-positive leukemia.

Antelope O et al.

Experimental Hematology, 2019

Laying the foundation for genomically-based risk assessment in chronic myeloid leukemia.

Branford S et al.

Leukemia, 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

Single-Molecule Sequencing Reveals Patterns of Preexisting Drug Resistance That Suggest Treatment Strategies in Philadelphia-Positive Leukemias.

Schmitt MW et al.

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

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1
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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."