Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.A692V
Back to variants list

EZH2

NM_004456.5:p.A692V

Associated Papers

Efficacy and safety of tazemetostat, an EZH2 inhibitor, in Chinese patients with relapsed/refractory follicular lymphoma: a multicentre, single-arm, phase 2 study.

Cao J et al.

Eclinicalmedicine, 2025

Minimally Humanized Ezh2 Exon-18 Mouse Cell Lines Validate Preclinical CRISPR/Cas9 Approach to Treat Weaver Syndrome.

Gibson WT et al.

Human Gene Therapy, 2025

Relapse-free survival in a pediatric patient with recurrent EZH2-mutant melanoma treated with adjuvant tazemetostat.

Resch EE et al.

Npj Precision Oncology, 2025

Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma.

Bai B et al.

Blood Cancer Journal, 2024

39191762 (PubMed )
Supplement: 41408_2024_1124_MOESM2_ESM.xlsx › Table_S3

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

Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes.

Kim JJ et al.

Cancer Research and Treatment, 2024

37475138 (PubMed )
Supplement: crt-2023-667-Supplementary-Table-S2.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

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

Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Kim M et al.

Cancer Research and Treatment, 2023

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

Plasma Concentrations and Cancer-Associated Mutations in Cell-Free Circulating DNA of Treatment-Naive Follicular Lymphoma for Improved Non-Invasive Diagnosis and Prognosis.

Hatipoğlu T et al.

Frontiers in Oncology, 2022

35795062 (PubMed )
Supplement: DataSheet_2.xlsx › FL_Cases_Variant_List__Table_S4

Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.

Pedrosa L et al.

Scientific Reports, 2021

33479306 (PubMed )
Supplement: 41598_2020_80376_MOESM1_ESM.xlsx › Table_S2._Mutational_data

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

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3

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

Nagy Á et al.

Genes, 2020

Targeted next generation sequencing reveals high mutation frequency of CREBBP, BCL2 and KMT2D in high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.

Evrard SM et al.

Haematologica, 2019

EZH2 alterations in follicular lymphoma: biological and clinical correlations.

Huet S et al.

Blood Cancer Journal, 2017

Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.

Bouska A et al.

Leukemia, 2017

27389057 (PubMed )
Supplement: NIHMS790817-supplement-6.xlsx › Sheet1

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

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

Ott HM 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

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

Morin RD et al.

Nature, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."