Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.A677G
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EZH2

NM_001203247.2:p.A677G

Associated Papers

Multisite clinical cross-validation and variant interpretation of a next generation sequencing panel for lymphoid cancer prognostication.

Sabatini PJB et al.

Journal of Clinical Pathology, 2025

38182402 (PubMed )
Supplement: jcp-78-3-s002.xlsx › Supplementary_Table_2

Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.

Pomares AA et al.

Plos One, 2025

40067847 (PubMed )
Supplement: pone.0318689.s001.zip › supplementary_material › TABLE_S3._Mutations_in_DLBCL__86_cases_.xlsx › Hoja1

EZH2 mutations in follicular lymphoma distort H3K27me3 profiles and alter transcriptional responses to PRC2 inhibition.

Romero P et al.

Nature Communications, 2024

38658543 (PubMed )
Supplement: 41467_2024_47701_MOESM1_ESM.pdf

Tazemetostat for tumors harboring SMARCB1/SMARCA4 or EZH2 alterations: results from NCI-COG pediatric MATCH APEC1621C.

Chi SN et al.

Journal of the National Cancer Institute, 2023

Drug addiction unveils a repressive methylation ceiling in EZH2-mutant lymphoma.

Kwok HS et al.

Nature Chemical Biology, 2023

Parallel testing of liquid biopsy (ctDNA) and tissue biopsy samples reveals a higher frequency of EZH2 mutations in follicular lymphoma.

Nagy Á et al.

Journal of Internal Medicine, 2023

Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Gao F et al.

Cancer Medicine, 2023

36971051 (PubMed )
Supplement: CAM4-12-10267-s001.xlsx › Sheet1

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Villani A et al.

Nature Cancer, 2023

36585449 (PubMed )
Supplement: 43018_2022_474_MOESM10_ESM.xlsx › Table_S5_-_Category_C_variants

Performance of the cobas EZH2 mutation test on clinical samples from non-Hodgkin lymphoma patients.

Shyu JY et al.

Plos One, 2023

Molecular-Targeted Therapy for Tumor-Agnostic Mutations in Acute Myeloid Leukemia.

Arai H et al.

Biomedicines, 2022

Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Crouch S et al.

Blood Advances, 2022

35363872 (PubMed )
Supplement: BLOODA_ADV-2021-005284-mmc1.xlsx › S2_DLBCL_SNV

EZH2 mutations at diagnosis in follicular lymphoma: a promising biomarker to guide frontline treatment.

Martínez-Laperche C et al.

Bmc Cancer, 2022

Prospective Clinical Genomic Profiling of Ewing Sarcoma: ERF and FGFR1 Mutations as Recurrent Secondary Alterations of Potential Biologic and Therapeutic Relevance.

Ogura K et al.

Jco Precision Oncology, 2022

SHR2554, an EZH2 inhibitor, in relapsed or refractory mature lymphoid neoplasms: a first-in-human, dose-escalation, dose-expansion, and clinical expansion phase 1 trial.

Song Y et al.

The Lancet. Haematology, 2022

Targeted Therapy for Adrenocortical Carcinoma: A Genomic-Based Search for Available and Emerging Options.

Hescheler DA et al.

Cancers, 2022

35681700 (PubMed )
Supplement: cancers-14-02721-s001.zip › cancers-1698248-supplementary.xlsx › Table_S1

Anaplastic thyroid cancer: genome-based search for new targeted therapy options.

Hescheler DA et al.

Endocrine Connections, 2022

35275096 (PubMed )
Supplement: supplementary_table_1.xlsx › Tab1

Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Gao F et al.

Frontiers in Genetics, 2021

34925435 (PubMed )
Supplement: DataSheet2.xlsx › Sheet1

EZH2-activating mutation: no reliable indicator for efficacy of methyltransferase inhibitors.

Quentmeier H et al.

Leukemia & Lymphoma, 2020

Quantitative Analysis and Monitoring of EZH2 Mutations Using Liquid Biopsy in Follicular Lymphoma.

Nagy Á et al.

Genes, 2020

EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia.

Stasik S et al.

Haematologica, 2020

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

Cohen AS et al.

Human Mutation, 2016

Polycomb repressive complex's evolutionary conserved function: the role of EZH2 status and cellular background.

Gall Trošelj K et al.

Clinical Epigenetics, 2016

Acquisition of a single EZH2 D1 domain mutation confers acquired resistance to EZH2-targeted inhibitors.

Baker T et al.

Oncotarget, 2015

A687V EZH2 is a driver of histone H3 lysine 27 (H3K27) hypertrimethylation.

Ott HM et al.

Molecular Cancer Therapeutics, 2014

Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 mutations.

Tirode F et al.

Cancer Discovery, 2014

Selective inhibition of EZH2 by EPZ-6438 leads to potent antitumor activity in EZH2-mutant non-Hodgkin lymphoma.

Knutson SK et al.

Molecular Cancer Therapeutics, 2014

EZH2 mutations are frequent and represent an early event in follicular lymphoma.

Bödör C et al.

Blood, 2013

Structural context of disease-associated mutations and putative mechanism of autoinhibition revealed by X-ray crystallographic analysis of the EZH2-SET domain.

Antonysamy S et al.

Plos One, 2013

Mutation of A677 in histone methyltransferase EZH2 in human B-cell lymphoma promotes hypertrimethylation of histone H3 on lysine 27 (H3K27).

McCabe MT et al.

Proceedings of the National Academy of Sciences of the United States of America, 2012

Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

Morin RD et al.

Nature, 2011

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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."