Varaico: Literature-Extracted Genetic Variants

Gene:PLCG2
Variant:p.L845F
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PLCG2

NM_002661.5:p.L845F

Associated Papers

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

Brown JR et al.

Blood, 2026

Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.

Krigstein M et al.

Annals of Laboratory Medicine, 2025

41277019 (PubMed )
Supplement: ALM3692_Supple1.xlsx › Variant_Calls

Resistance to targeted therapies in chronic lymphocytic leukemia: Current status and perspectives for clinical and diagnostic practice.

Blombery P et al.

Leukemia, 2025

Resistance mechanisms and approach to chronic lymphocytic leukemia after BTK inhibitor therapy.

Gruessner C et al.

Leukemia & Lymphoma, 2025

Multiplex digital PCR enables sensitive detection of resistance to BTK inhibitors.

Garcia M et al.

Annals of Hematology, 2025

Acquired mutations in patients with relapsed/refractory CLL who progressed in the ALPINE study.

Brown JR et al.

Blood Advances, 2025

Early reappearance of intraclonal proliferative subpopulations in ibrutinib-resistant chronic lymphocytic leukemia.

Pozzo F et al.

Leukemia, 2024

38914716 (PubMed )
Supplement: 41375_2024_2301_MOESM2_ESM.xlsx › Foglio1

Ultra-deep mutational landscape in chronic lymphocytic leukemia uncovers dynamics of resistance to targeted therapies.

Woolston DW et al.

Haematologica, 2024

Absence of BTK, BCL2, and PLCG2 Mutations in Chronic Lymphocytic Leukemia Relapsing after First-Line Treatment with Fixed-Duration Ibrutinib plus Venetoclax.

Jain N et al.

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

Mutations Detected in Real World Clinical Sequencing during BTK Inhibitor Treatment in CLL.

Brown J et al.

Research Square, 2024

Treatment of Chronic Lymphocytic Leukemia in the Personalized Medicine Era.

Sánchez Suárez MDM et al.

Pharmaceutics, 2023

Acquired BTK mutations associated with resistance to noncovalent BTK inhibitors.

Qi J et al.

Blood Advances, 2023

All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.

López-Oreja I et al.

Hemasphere, 2023

37746159 (PubMed )
Supplement: hs9-7-e962-s002.xlsx › Table_S7

BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib.

Bonfiglio S et al.

Blood Advances, 2023

Duvelisib Eliminates CLL B Cells, Impairs CLL-Supporting Cells, and Overcomes Ibrutinib Resistance in a Xenograft Model.

Chen SS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

G-CSF drives autoinflammation in APLAID.

Mulazzani E et al.

Nature Immunology, 2023

Clinical and immunological features of an APLAID patient caused by a novel mutation in PLCG2.

Peng Q et al.

Frontiers in Immunology, 2023

The role of PLCγ2 in immunological disorders, cancer, and neurodegeneration.

Jackson JT et al.

The Journal of Biological Chemistry, 2021

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

Genetic and Non-Genetic Mechanisms of Resistance to BCR Signaling Inhibitors in B Cell Malignancies.

Ondrisova L et al.

Frontiers in Oncology, 2020

An update on: molecular genetics of high-risk chronic lymphocytic leukemia.

Moia R et al.

Expert Review of Hematology, 2020

Dissection of subclonal evolution by temporal mutation profiling in chronic lymphocytic leukemia patients treated with ibrutinib.

Gángó A et al.

International Journal of Cancer, 2020

Chronic lymphocytic leukemia: 2020 update on diagnosis, risk stratification and treatment.

Hallek M

American Journal of Hematology, 2019

Targeted multigene deep sequencing of Bruton tyrosine kinase inhibitor-resistant chronic lymphocytic leukemia with disease progression and Richter transformation.

Kanagal-Shamanna R et al.

Cancer, 2019

Functional characterization of phospholipase C-γ2 mutant protein causing both somatic ibrutinib resistance and a germline monogenic autoinflammatory disorder.

Walliser C et al.

Oncotarget, 2018

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 3

Dynamic Allostery in PLCγ1 and Its Modulation by a Cancer Mutation Revealed by MD Simulation and NMR.

Koss H et al.

Biophysical Journal, 2018

29972810 (PubMed )
Supplement: mmc3.pdf

Are BTK and PLCG2 mutations necessary and sufficient for ibrutinib resistance in chronic lymphocytic leukemia?

Lampson BL et al.

Expert Review of Hematology, 2018

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa.

Neves JF et al.

Frontiers in Immunology, 2018

The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.

Landau DA et al.

Nature Communications, 2017

29259203 (PubMed )
Supplement: 41467_2017_2329_MOESM1_ESM.pdf

MALT1 Inhibition Is Efficacious in Both Naïve and Ibrutinib-Resistant Chronic Lymphocytic Leukemia.

Saba NS et al.

Cancer Research, 2017

PLCG2 C2 domain mutations co-occur with BTK and PLCG2 resistance mutations in chronic lymphocytic leukemia undergoing ibrutinib treatment.

Jones D et al.

Leukemia, 2017

Using high-sensitivity sequencing for the detection of mutations in BTK and PLCγ2 genes in cellular and cell-free DNA and correlation with progression in patients treated with BTK inhibitors.

Albitar A et al.

Oncotarget, 2017

The Phospholipase Cγ2 Mutants R665W and L845F Identified in Ibrutinib-resistant Chronic Lymphocytic Leukemia Patients Are Hypersensitive to the Rho GTPase Rac2 Protein.

Walliser C et al.

The Journal of Biological Chemistry, 2016

Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition.

Burger JA et al.

Nature Communications, 2016

Secondary mutations as mediators of resistance to targeted therapy in leukemia.

Daver N et al.

Blood, 2015

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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."