|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report a stepwise feedback mechanism entailing key residues within distinctive interfacing motifs of EZH2 or EED that are found to be mutated in cancers and/or Weaver syndrome.
|
29681499 |
2018 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
EZH2-associated overgrowth, caused by constitutional heterozygous mutations within Enhancer of Zeste homologue 2 (EZH2), has a phenotypic spectrum ranging from tall stature without obvious intellectual disability or dysmorphic features to classical Weaver syndrome (OMIM #277590).
|
31724824 |
2019 |
|
Weaver syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
These data show that mutations in EZH2 cause Weaver syndrome.
|
22177091 |
2012 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Weaver syndrome and defective cortical development: a rare association.
|
23239504 |
2013 |
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Our results support the hypothesis that WS is caused by constitutional mutations in EZH2 that alter the histone methyltransferase function of PRC2.
|
26694085 |
2016 |
|
Weaver syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These data show that mutations in EZH2 cause Weaver syndrome.
|
22177091 |
2012 |
|
Weaver syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our observation, together with previous reports suggests that EED gene testing is warranted in patients with the overgrowth syndrome features and suspicion of Weaver syndrome with normal results of EZH2 gene sequencing.
|
29410511 |
2018 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
HDAC1,2 inhibition impairs EZH2- and BBAP-mediated DNA repair to overcome chemoresistance in EZH2 gain-of-function mutant diffuse large B-cell lymphoma.
|
25605023 |
2015 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We detected EZH2 mutations in 12/55 (22%) follicular lymphomas (FL), 5/35 (14%) diffuse large B cell lymphomas with a germinal center immunophenotype (GCB-DLBCL), and 2/11 (18%) high grade B cell lymphomas with concurrent rearrangements of BCL2 and MYC.
|
22194861 |
2011 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A new study now reports recurrent somatic mutation of EZH2, a histone methyltransferase that modifies H3K27, in diffuse large B-cell lymphoma (DLBCL).
|
20104248 |
2010 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Activating mutations of genes involved in the BCR and NF-κB pathways (CD79A, CD79B, MYD88, and CARD11) or in epigenetic regulation (EZH2) have been recently reported, preferentially in one of the two DLBCL subtypes.
|
24327543 |
2014 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this study, we treated Burkitt lymphoma (BL) and diffuse large B-cell lymphoma (DLBCL) cell lines with 3-deazaneplanocin-A (DZNep), an indirect EZH2 inhibitor which possesses anticancer properties both in-vitro and in-vivo.
|
31419226 |
2019 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in EZH2 (Y646) and CD79B (Y196) were detected in 13.2% and 8% of the samples, respectively, almost exclusively in follicular lymphomas and diffuse large B-cell lymphomas.
|
23361872 |
2013 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germinal center-like DLBCL is enriched for activating EZH2 mutations, and encouraging activity has been observed for the EZH2 inhibitor tazemetostat, which now has a fast-track US Food and Drug Administration designation.
|
31287161 |
2019 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Next-generation sequencing of follicular lymphoma and diffuse-large B-cell lymphoma has revealed frequent somatic, heterozygous Y641 mutations in the histone methyltransferase EZH2.
|
21190999 |
2011 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The histone methyltransferase EZH2 is frequently mutated in germinal center-derived diffuse large B-cell lymphoma and follicular lymphoma.
|
24802772 |
2014 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
GSK126 effectively inhibits the proliferation of EZH2 mutant DLBCL cell lines and markedly inhibits the growth of EZH2 mutant DLBCL xenografts in mice.
|
23051747 |
2012 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We also identified multiple acquired mutations in EZH2 inhibitor-resistant DLBCL cell lines.
|
29572378 |
2018 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
In conclusion, H3K27me3 was related to EZH2 and c-Myc expression, suggesting formation of a MYC-EZH2-H3K27me3 loop in a subgroup of DLBCL cases.
|
25149548 |
2014 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
EZH2 Inhibition by Tazemetostat Results in Altered Dependency on B-cell Activation Signaling in DLBCL.
|
28835384 |
2017 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Moreover, oncogenic BCL6 and EZH2 cooperate to accelerate diffuse large B cell lymphoma (DLBCL) development and combinatorial targeting of these repressors results in enhanced anti-lymphoma activity in DLBCLs.
|
27505670 |
2016 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
High-level EZH2 and H3K27me3 were common in DLBCL independent of cell-of-origin and EZH2 mutation.
|
25651430 |
2015 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We demonstrated that DLBCL was associated with increased expression of the EZH2 PcG protein and Ki67.
|
24304372 |
2014 |