Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.Y590F
Back to variants list

EZH2

NM_001203249.2:p.Y590F

Associated Papers

Clinical Validation of Duoseq, a Novel Assay for Clinical DNA and RNA Sequencing.

Thacker E et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

The role of ASXL1, SRSF2, and EZH2 mutations in chromatin dysregulation of myelodysplastic neoplasia and acute myeloid leukemia.

Yu H et al.

Leukemia, 2025

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

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc8.xlsx › Sheet1

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

Mutant EZH2 alters the epigenetic network and increases epigenetic heterogeneity in B cell lymphoma.

Griess O et al.

Plos Biology, 2025

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

Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.

Tandukar B et al.

Biorxiv : the Preprint Server for Biology, 2024

39091884 (PubMed )
Supplement: media-6.xlsx › Data_Points

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

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

Thyroid papillary carcinoma combined with primary follicular lymphoma: a case report.

Xu T et al.

Diagnostic Pathology, 2024

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

Romero P et al.

Nature Communications, 2024

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

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

Structural basis for inactivation of PRC2 by G-quadruplex RNA.

Song J et al.

Science (new York, N.y.), 2023

TP63 fusions drive multicomplex enhancer rewiring, lymphomagenesis, and EZH2 dependence.

Wu G et al.

Science Translational Medicine, 2023

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

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

Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Fitzgerald S et al.

Molecular Diagnosis & Therapy, 2023

37099071 (PubMed )
Supplement: 40291_2023_651_MOESM1_ESM.xlsx › Suppl._Table_2

Tracing Founder Mutations in Circulating and Tissue-Resident Follicular Lymphoma Precursors.

Schroers-Martin JG et al.

Cancer Discovery, 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

Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.

Shen R et al.

Signal Transduction and Targeted Therapy, 2023

37032379 (PubMed )
Supplement: 41392_2023_1358_MOESM4_ESM.xlsx › __

Waldenström macroglobulinemia whole genome reveals prolonged germinal center activity and late copy number aberrations.

Maclachlan KH et al.

Blood Advances, 2023

Rapid and Automated Semiconductor-Based Next-Generation Sequencing for Simultaneous Detection of Somatic DNA and RNA Aberrations in Myeloid Neoplasms.

Sande CM et al.

The Journal of Molecular Diagnostics : Jmd, 2023

Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.

Zhao M et al.

Frontiers in Genetics, 2023

37152994 (PubMed )
Supplement: Table3.XLSX › Raw_data

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

A unifying hypothesis for PNMZL and PTFL: morphological variants with a common molecular profile.

Salmeron-Villalobos J et al.

Blood Advances, 2022

35609565 (PubMed )
Supplement: advancesADV2022007322-suppl1.pdf

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

Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma.

Rivas-Delgado A et al.

Diagnostics (basel, Switzerland), 2022

35885481 (PubMed )
Supplement: diagnostics-12-01575-s001.zip › Supp_Files › diagnostics-1749759_Supp_Tables_R1.xlsx › Table_S2

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

CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.

Li Q et al.

Science Advances, 2022

Systematic review and meta-analysis of genomic alterations in acral melanoma.

Broit N et al.

Pigment Cell & Melanoma Research, 2022

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

Genomic Progression of Precancerous Actinic Keratosis to Squamous Cell Carcinoma.

Kim YS et al.

The Journal of Investigative Dermatology, 2022

The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Karachaliou GS et al.

Bmc Cancer, 2022

34986841 (PubMed )
Supplement: 12885_2021_8908_MOESM2_ESM.xlsx › APC_CTNNB1_wild_type
1–50 of 107 papers
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."