Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.Y641H
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EZH2

NM_001203247.2:p.Y641H

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

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

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

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

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

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Homan CC et al.

Blood Advances, 2023

37406166 (PubMed )
Supplement: BLOODA_ADV-2023-010045-mmc4.xlsx › Supp_Table_3__final

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

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

Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Zhang L et al.

Molecular Oncology, 2022

35971249 (PubMed )
Supplement: MOL2-16-3689-s003.xlsx › Table_S2

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

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

Li Q et al.

Science Advances, 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

Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.

Frauenfeld L et al.

Blood Advances, 2022

34654055 (PubMed )
Supplement: advancesADV2021006034-suppl1.pdf

A tumor suppressor role for EZH2 in diffuse midline glioma pathogenesis.

Dhar S et al.

Acta Neuropathologica Communications, 2022

T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.

Wang J et al.

Frontiers in Immunology, 2022

35572515 (PubMed )
Supplement: Table_2.xlsx › S5

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 mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

Fangazio M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34050029 (PubMed )
Supplement: pnas.2104504118.sd02.xlsx › Table_S2

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

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

Hereditary cancer syndrome-associated pathogenic variants are common in patients with hematologic malignancies subsequent to primary solid cancer.

Oh J et al.

Journal of Cancer, 2021

34093829 (PubMed )
Supplement: jcav12p4288s2.xlsx › Table_S3

Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.

Abelson S et al.

Science Advances, 2020

33298453 (PubMed )
Supplement: abe3722_Table_S3.xlsx › tab2

Routine next generation sequencing of lymphoid malignancies: clinical utility and challenges from a 3-Year practical experience.

Pillonel V et al.

Leukemia & Lymphoma, 2020

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

The genetic evolution of metastatic uveal melanoma.

Shain AH et al.

Nature Genetics, 2019

31253977 (PubMed )
Supplement: NIHMS1529305-supplement-5.xlsx › Sheet1

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma.

González-Rincón J et al.

Plos One, 2019

30802265 (PubMed )
Supplement: pone.0212813.s010.xlsx › Tabla_S4.SNV___Indel

Epigenetic Enzyme Mutations: Role in Tumorigenesis and Molecular Inhibitors.

Han M et al.

Frontiers in Oncology, 2019

Female genitourinary tract melanoma: mutation analysis with clinicopathologic correlation: a single-institution experience.

Saglam O et al.

Melanoma Research, 2018

High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Pillonel V et al.

Leukemia, 2018

29556019 (PubMed )
Supplement: 41375_2018_82_MOESM10_ESM.xlsx › .

Non-invasive monitoring of diffuse large B-cell lymphoma by cell-free DNA high-throughput targeted sequencing: analysis of a prospective cohort.

Bohers E et al.

Blood Cancer Journal, 2018

30069017 (PubMed )
Supplement: 41408_2018_111_MOESM2_ESM.pdf

Patterns of genomic evolution in advanced melanoma.

Birkeland E et al.

Nature Communications, 2018

29991680 (PubMed )
Supplement: 41467_2018_5063_MOESM7_ESM.xlsx › mutationsInDriverGenes_withDriv

EZH2 alterations in follicular lymphoma: biological and clinical correlations.

Huet S et al.

Blood Cancer Journal, 2017

Mutations of CREBBP and SOCS1 are independent prognostic factors in diffuse large B cell lymphoma: mutational analysis of the SAKK 38/07 prospective clinical trial cohort.

Juskevicius D et al.

Journal of Hematology & Oncology, 2017

28302137 (PubMed )
Supplement: 13045_2017_438_MOESM1_ESM.xlsx › Selected_mutations_2016.08.22

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
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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."