Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.Y646N
Back to variants list

EZH2

NM_004456.5:p.Y646N

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

Myeloid sarcoma shows a high frequency of mutations activating the MAPK/ERK pathway and association with clonal hematopoiesis.

Nann D et al.

The Journal of Pathology. Clinical Research, 2025

40906433 (PubMed )
Supplement: CJP2-11-e70044-s001.pdf

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

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

Griess O et al.

Plos Biology, 2025

Whole-exome Sequencing of Atypical Parathyroid Tumors Detects Novel and Common Genes Linked to Parathyroid Tumorigenesis.

Pardi E et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

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

Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies.

Artymiuk CJ et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Transformation of t(14;18)-negative follicular lymphoma to plasmablastic lymphoma: a case report with analysis of genetic evolution.

Lim S et al.

Diagnostic Pathology, 2024

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM5_ESM.xlsx › S5

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

Romero P et al.

Nature Communications, 2024

Mutation landscape in Chinese nodal diffuse large B-cell lymphoma by targeted next generation sequencing and their relationship with clinicopathological characteristics.

Cao B et al.

Bmc Medical Genomics, 2024

38609996 (PubMed )
Supplement: 12920_2024_1866_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

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

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_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

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

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 › __

Targeted deep sequencing reveals genomic alterations of actinic keratosis/cutaneous squamous cell carcinoma in situ and cutaneous squamous cell carcinoma.

Kim YS et al.

Experimental Dermatology, 2023

Real-life disease monitoring in follicular lymphoma patients using liquid biopsy ultra-deep sequencing and PET/CT.

Jiménez-Ubieto A et al.

Leukemia, 2023

Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.

Vanni I et al.

International Journal of Molecular Sciences, 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

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

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

Li Q et al.

Science Advances, 2022

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

Indeterminate Thyroid Fine-Needle Aspirations in Pediatrics: Exploring Clinicopathologic Features and Utility of Molecular Profiling.

Baran JA et al.

Hormone Research in Paediatrics, 2022

Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Guan T et al.

Frontiers in Oncology, 2022

36465410 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_table_4

Analyzing Genetic Differences Between Sporadic Primary and Secondary/Tertiary Hyperparathyroidism by Targeted Next-Generation Panel Sequencing.

Hong YA et al.

Endocrine Pathology, 2021

Genetic and epigenetic characterization of posterior pituitary tumors.

Schmid S et al.

Acta Neuropathologica, 2021

Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Bruscaggin A et al.

Blood Advances, 2021

34500472 (PubMed )
Supplement: advancesADV2021004528-suppl2.xlsx › Table_S7

Genetic evolution of in situ follicular neoplasia to aggressive B-cell lymphoma of germinal center subtype.

Vogelsberg A et al.

Haematologica, 2021

32855278 (PubMed )
Supplement: 2020_254854_VOGELSBERG_SUPPL.pdf

The landscape of driver mutations in cutaneous squamous cell carcinoma.

Chang D et al.

Npj Genomic Medicine, 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

Molecular Profile of Advanced Cutaneous Squamous Cell Carcinoma.

Jones J et al.

The Journal of Clinical and Aesthetic Dermatology, 2021

Point Mutation Specific Antibodies in B-Cell and T-Cell Lymphomas and Leukemias: Targeting IDH2, KRAS, BRAF and Other Biomarkers RHOA, IRF8, MYD88, ID3, NRAS, SF3B1 and EZH2.

Singh K et al.

Diagnostics (basel, Switzerland), 2021

Loss-of-function mutations in the histone methyltransferase EZH2 promote chemotherapy resistance in AML.

Kempf JM et al.

Scientific Reports, 2021

1–50 of 118 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."