EZH2 A692V

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Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
B Acute Lymphoblastic Leukemia1
EZH2 A692V	GSK126	Predictive	D	Supports Sensitivity Response	3	submitted	EID11707 The A687V EZH2-mutant SUP-B8 B-ALL cell line exhibited the greatest sensitivity to EZH2 inhibitor (GSK126) compared to 7 other EZH2 wild-type B-ALL cell lines by cell proliferation assay. The increase… (full text at CIViC) PMID 25253781 · Ott et al., 2014 · Open in CIViC	civic
B-Cell Non-Hodgkin Lymphoma2
EZH2 A692V	(oncogenic)	Oncogenic	C	Supports Oncogenicity	2	submitted	EID12896 In this study, tumor and matched normal DNA and RNA from 127 cases of B-cell non-Hodgkin lymphoma were analyzed to identify recurrent somatic variants. EZH2 A692V was identified in one lymphoma case. … (full text at CIViC) PMID 21796119 ·

Molecular profile

Therapy

Type

Level

Direction · significance

Rating (1–5)

Status

Evidence

Source

B Acute Lymphoblastic Leukemia1

EZH2 A692V

GSK126

Predictive

Supports Sensitivity Response

submitted

EID11707

The A687V EZH2-mutant SUP-B8 B-ALL cell line exhibited the greatest sensitivity to EZH2 inhibitor (GSK126) compared to 7 other EZH2 wild-type B-ALL cell lines by cell proliferation assay. The increase… (full text at CIViC)

PMID 25253781 · Ott et al., 2014 · Open in CIViC

civic

B-Cell Non-Hodgkin Lymphoma2

EZH2 A692V

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID12896

In this study, tumor and matched normal DNA and RNA from 127 cases of B-cell non-Hodgkin lymphoma were analyzed to identify recurrent somatic variants. EZH2 A692V was identified in one lymphoma case. … (full text at CIViC)

PMID 21796119 ·

Diffuse Large B-Cell Lymphoma1
EZH2 Y646S OR EZH2 Y646F OR EZH2 Y646H OR EZH2 Y646C OR EZH2 Y646N OR EZH2 A692V OR EZH2 A682G	Tazemetostat	Predictive	B	Supports Sensitivity Response	3	accepted	EID11110 This phase II study evaluated the efficacy and safety of the EZH2 inhibitor tazemetostat in Japanese adults with relapsed or refractory B-cell non-Hodgkin lymphoma harboring EZH2-activating mutations … (full text at CIViC) PMID 34159682 · Izutsu et al., 2021 · Open in CIViC	civic

Diffuse Large B-Cell Lymphoma1

EZH2 Y646S OR EZH2 Y646F OR EZH2 Y646H OR EZH2 Y646C OR EZH2 Y646N OR EZH2 A692V OR EZH2 A682G

Tazemetostat

Predictive

Supports Sensitivity Response

accepted

EID11110

This phase II study evaluated the efficacy and safety of the EZH2 inhibitor tazemetostat in Japanese adults with relapsed or refractory B-cell non-Hodgkin lymphoma harboring EZH2-activating mutations … (full text at CIViC)

PMID 34159682 · Izutsu et al., 2021 · Open in CIViC

civic

Follicular Lymphoma3
EZH2 A692V	(oncogenic)	Oncogenic	B	Supports Oncogenicity	3	submitted	EID12885 In this study, 366 patients with follicular lymphoma were analyzed using next-generation sequencing and Sanger sequencing to evaluate EZH2 variants. EZH2 variants were identified in 101 patients (27.6… (full text at CIViC) PMID 24052547 · Bödör et al., 2013 · Open in CIViC	civic
EZH2 Y646S OR EZH2 Y646F OR EZH2 Y646H OR EZH2 Y646C OR EZH2 Y646N OR EZH2 A692V OR EZH2 A682G	(oncogenic)	Oncogenic	B	Supports Oncogenicity	4	accepted	EID11111 In this large cohort study, 366 patients with follicular lymphoma (FL) were recruited to investigate the incidence and distribution of EZH2 mutations. NGS and Sanger detected EZH2 positive mutations i… (full text at CIViC) PMID 24052547 · Bödör et al., 2013 · Open in CIViC	civic
EZH2 Y646S OR EZH2 Y646F OR EZH2 Y646H OR EZH2 Y646C OR EZH2 Y646N OR EZH2 A692V OR EZH2 A682G	Tazemetostat	Predictive	B	Supports Sensitivity Response	4	accepted	EID11109 In this study, Koji Izutsu et al. conducted a multicenter, open-label phase II clinical trial to evaluate the efficacy and safety of the EZH2 inhibitor tazemetostat in Japanese patients with relapsed … (full text at CIViC) PMID 34159682 · Izutsu et al., 2021 · Open in CIViC	civic

Follicular Lymphoma3

EZH2 A692V

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID12885

In this study, 366 patients with follicular lymphoma were analyzed using next-generation sequencing and Sanger sequencing to evaluate EZH2 variants. EZH2 variants were identified in 101 patients (27.6… (full text at CIViC)

PMID 24052547 · Bödör et al., 2013 · Open in CIViC

civic

EZH2 Y646S OR EZH2 Y646F OR EZH2 Y646H OR EZH2 Y646C OR EZH2 Y646N OR EZH2 A692V OR EZH2 A682G

(oncogenic)

Oncogenic

Supports Oncogenicity

accepted

EID11111

In this large cohort study, 366 patients with follicular lymphoma (FL) were recruited to investigate the incidence and distribution of EZH2 mutations. NGS and Sanger detected EZH2 positive mutations i… (full text at CIViC)

PMID 24052547 · Bödör et al., 2013 · Open in CIViC

civic

EZH2 Y646S OR EZH2 Y646F OR EZH2 Y646H OR EZH2 Y646C OR EZH2 Y646N OR EZH2 A692V OR EZH2 A682G

Tazemetostat

Predictive

Supports Sensitivity Response

accepted

EID11109

In this study, Koji Izutsu et al. conducted a multicenter, open-label phase II clinical trial to evaluate the efficacy and safety of the EZH2 inhibitor tazemetostat in Japanese patients with relapsed … (full text at CIViC)

PMID 34159682 · Izutsu et al., 2021 · Open in CIViC

civic

Non-Hodgkin Lymphoma1
EZH2 A692V	(oncogenic)	Oncogenic	D	Supports Oncogenicity	3	submitted	EID12897 In this study, biochemical and cellular assays were used to characterize the EZH2 A687V variant identified in non-Hodgkin lymphoma. EZH2 A687V exhibited increased catalytic activity toward histone H3 … (full text at CIViC) PMID 25253781 · Ott et al., 2014 · Open in CIViC	civic

Non-Hodgkin Lymphoma1

EZH2 A692V

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID12897

In this study, biochemical and cellular assays were used to characterize the EZH2 A687V variant identified in non-Hodgkin lymphoma. EZH2 A687V exhibited increased catalytic activity toward histone H3 … (full text at CIViC)

PMID 25253781 · Ott et al., 2014 · Open in CIViC

civic

Unmapped disease1unmapped disease
EZH2 A692V	(functional)	Functional	D	Supports Gain Of Function	4	submitted	EID11700 A692V was shown to lead to increased H3K27 trimethylation in a breast cancer cell line (MCF-7) with induced transient expression and a B-cell ALL cell line (SUP-B8) with endogenous expression of the v… (full text at CIViC) PMID 25253781 · Ott et al., 2014 · Open in CIViC	civic

Unmapped disease1unmapped disease

EZH2 A692V

(functional)

Functional

Supports Gain Of Function

submitted

EID11700

A692V was shown to lead to increased H3K27 trimethylation in a breast cancer cell line (MCF-7) with induced transient expression and a B-cell ALL cell line (SUP-B8) with endogenous expression of the v… (full text at CIViC)

PMID 25253781 · Ott et al., 2014 · Open in CIViC

civic

Evidence by cancer (9 items)

Clinical significance (0)