Gene Detail

Gene Symbol EZH2
Synonyms ENX-1 | ENX1 | EZH2b | KMT6 | KMT6A | WVS | WVS2
Gene Description EZH2, histone-lysine N-methyltransferase EZH2, encodes the catalytic subunit of the polycomb repressive complex 2, which methylates histone H3 to represses gene transcription, including a number of tumor suppressor genes (PMID: 24362326, PMID: 30112706). EZH2 mutations and overexpression has been observed in a variety of tumor types, including non-Hodgkin lymphoma (PMID: 30112706), leukemia (PMID: 29289837), and ovarian cancer (PMID: 29726819),
Entrez Id 2146
Chromosome 7
Map Location 7q36.1
Canonical Transcript NM_001203247

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
M662T missense unknown EZH2 M662T lies within the SET domain of the Ezh2 protein (UniProt.org). M662T has been identified in sequencing studies and predicted to be neutral (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
Y646S missense gain of function EZH2 Y646S (corresponds to Y641S in the canonical isoform) lies within a SET domain of the Ezh2 protein (UniProt.org). Y646S confers a gain of function to the Ezh2 protein, as demonstrated by altered substrate specificity, increased catalytic efficiency for H3K27 trimethylation (PMID: 21190999), and is transforming in cell culture (PMID: 25493630).
Y646H missense gain of function - predicted EZH2 Y646H (corresponds to Y641H in the canonical isoform) lies within a SET domain of the Ezh2 protein (UniProt.org). Y646H is predicted to confer a gain of function to the Ezh2 protein, as demonstrated by altered substrate specificity and increased catalytic efficiency for H3K27 trimethylation (PMID: 21078963).
K241Q missense unknown EZH2 K241Q lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). K241Q has been identified in sequencing studies and predicted to have a medium functional impact (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
Y728* nonsense unknown EZH2 Y728* results in a premature truncation of the Ezh2 protein at amino acid 728 of 746 (UniProt.org). Y728* has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
N152fs frameshift loss of function - predicted EZH2 N152fs results in a change in the amino acid sequence of the Ezh2 protein beginning at aa 152 of 746, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), N152fs is predicted to result in a loss of function in the Ezh2 protein.
R353C missense unknown EZH2 R353C lies within the CDYL-interacting region of the Ezh2 protein (UniProt.org). R353C has been identified in sequencing studies and predicted to have a medium functional impact (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
over exp none no effect EZH2 over exp indicates an over expression of the EZH2 protein. However, the mechanism causing the over expression is unspecified.
E720K missense unknown EZH2 E720K lies within the SET domain of the Ezh2 protein (UniProt.org). E720K has been identified in sequencing studies and predicted to have a medium functional impact (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
R207Q missense unknown EZH2 R207Q lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). R207Q has been identified in sequencing studies and predicted to be neutral (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
S21D missense gain of function EZH2 S21D lies within a interaction with DNMT1, DNMT3A and DNMT3B region of the Ezh2 protein (UniProt.org). S21D results in increased Stat3 methylation and activation, is transforming in culture, and promotes tumor growth in animal models (PMID: 23239736, PMID: 16224021, PMID: 23684459).
C571Y missense unknown EZH2 C571Y lies within the CXC domain of the Ezh2 protein (UniProt.org). C571Y has not been biochemically characterized, but is predicted to destabilize Ezh2 protein structure resulting in loss of function (PMID: 24367637) and therefore, C571Y effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
H530N missense unknown EZH2 H530N lies within the CXC domain of the Ezh2 protein (UniProt.org). H530N has not been biochemically characterized, but is predicted to destabilize Ezh2 protein structure resulting in loss of function (PMID: 24367637) and therefore, H530N effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
R213H missense unknown EZH2 R213H lies within DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). R213H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
C576W missense loss of function - predicted EZH2 C576W lies within a CXC domain and Cys-rich region of the Ezh2 protein (UniProt.org). C576W is predicted to confer a loss of function to the Ezh2 protein, as demonstrated by reduced H3K27 trimethylation activity (PMID: 20601953).
I109K missense unknown EZH2 I109K lies within the D1 domain of the Ezh2 protein (PMID: 26360609). I109K has been demonstrated as a secondary mutation confers resistance to Ezh2 inhibitors (PMID: 26360609), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Jun 2018). Y
A677G missense gain of function EZH2 A677G lies within the SET domain of the Ezh2 protein (Uniprot.org). A677G confers a gain of function on Ezh2, as demonstrated by increased H3K27 trimethylation in human B-cell lymphoma cell lines (PMID: 22323599) and in breast cancer cell lines (PMID: 25253781). Y
C534fs frameshift loss of function - predicted EZH2 C534fs likely results in a truncation of the Ezh2 protein at aa 534 of 746, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), C534fs is predicted to result in a loss of function in the Ezh2 protein.
Y646F missense gain of function EZH2 Y646F (corresponds to Y641F in the canonical isoform) lies within a SET domain of the Ezh2 protein (UniProt.org). Y646F confers a gain of function to the Ezh2 protein, as demonstrated by altered substrate specificity and increased catalytic efficiency for H3K27 trimethylation (PMID: 21190999, PMID: 24563539).
R78H missense unknown EZH2 R78H lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). R78H has been identified in sequencing studies (PMID: 24755471) and predicted to have a medium functional impact (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
positive unknown unknown EZH2 positive indicates the presence of the EZH2 gene, mRNA, and/or protein.
Y728Lfs*6 frameshift unknown EZH2 Y728Lfs*6 indicates a shift in the reading frame starting at amino acid 728 and terminating 6 residues downstream causing a premature truncation of the 746 amino acid Ezh2 protein (UniProt.org). Y728Lfs*6 has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Feb 2018).
E246* nonsense loss of function - predicted EZH2 E246* results in a premature truncation of the Ezh2 protein at amino acid 246 of 746 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E246* is predicted to lead to a loss of Ezh2 protein function.
G5R missense unknown EZH2 G5R lies within DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). G5R has been identified in sequencing studies and predicted to have a low functional impact (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
Q62K missense unknown EZH2 Q62K lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). Q62K has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
A237S missense unknown EZH2 A237S lies within the DNMT1, DNMT3A and DNMT3B-interacting regions of the Ezh2 protein (UniProt.org). A237S has been identified in sequencing studies and predicted to be neutral (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
Y641F missense gain of function EZH2 Y641F lies within the SET domain of the Ezh2 protein (UniProt.org). Y641F confers a gain of function to the Ezh2 protein, as demonstrated by altered substrate specificity, increased catalytic efficiency for H3K27 trimethylation (PMID: 21190999, PMID: 21078963), and increased H3K27 trimethylation in breast cancer cell lines (PMID: 25253781).
Q540P missense unknown EZH2 Q540P lies within the CXC domain of the Ezh2 protein (UniProt.org). Q540P has been identified in sequencing studies and predicted to have a medium functional impact (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
wild-type none no effect Wild-type EZH2 indicates that no mutation has been detected within the EZH2 gene.
P746S missense unknown EZH2 P746S does not lie within any known functional domains of the Ezh2 protein (UniProt.org). P746S has been identified in sequencing studies (PMID: 22817889) and predicted to be neutral (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
Q62R missense unknown EZH2 Q62R lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). Q62R has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
D185H missense unknown EZH2 D185H lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). D185H has been identified in sequencing studies (PMID: 26693053), but has not been characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
Y641N missense gain of function EZH2 Y641N lies within the SET domain of the Ezh2 protein (PMID: 24362326). Y641N confers a gain of function to the Ezh2 protein, as demonstrated by increased trimethylation of H3K27 in an in-vitro assay (PMID: 21078963), in B-cell lymphoma cells in culture (PMID: 21190999) and in breast cancer cell lines (PMID: 25253781).
G159R missense unknown EZH2 G159R lies within the DNMT1, DNMT3A, and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). G159R has been identified in sequencing studies (PMID: 24931631) and predcited to have a medium functional impact (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
K234N missense unknown EZH2 K234N lies within the DNMT1, DNMT3A and DNMT3B-interacting regions of the Ezh2 protein (UniProt.org). K234N has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
act mut unknown gain of function EZH2 act mut indicates that this variant results in a gain of function in the EZH2 protein. However, the specific amino acid change has not been identified.
Y736C missense unknown EZH2 Y736C does not lie within any known functional domains of the Ezh2 protein (UniProt.org). Y736C has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
E59* nonsense loss of function - predicted EZH2 E59* results in a premature truncation of the Ezh2 protein at amino acid 59 of 746 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E59* is predicted to lead to a loss of Ezh2 protein function.
Y641C missense gain of function EZH2 Y641C lies within the SET domain of the Ezh2 protein (UniProt.org). Y641C confers a gain of function to the Ezh2 protein, as demonstrated by altered substrate specificity and increased catalytic efficiency for H3K27 trimethylation as indicated in cell culture and in an in-vitro assay (PMID: 21856302).
C530W missense unknown EZH2 C530W lies within the CXC domain of the Ezh2 protein (UniProt.org). C530W has been identified in sequencing studies and predicted to have a high functional impact (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
E740K missense unknown EZH2 E740K does not lie within any known functional domains of the Ezh2 protein (UniProt.org). E740K has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
Y646C missense loss of function - predicted EZH2 Y646C lies within a SET domain of the Ezh2 protein (UniProt.org). Y646C is predicted to confer a loss of function to the Ezh2 protein, as demonstrated by reduced downstream H3K27 trimethylation activity (PMID: 20601953).
R685C missense loss of function - predicted EZH2 R685C lies within a SET domain of the Ezh2 protein (UniProt.org). R685C (reported as R690C) is predicted to confer a loss of function to the Ezh2 protein, as demonstrated by a loss of downstream H3K27 trimethylation activity (PMID: 20601953).
E162* nonsense loss of function - predicted EZH2 E162* results in a premature truncation of the Ezh2 protein at amino acid 162 of 746 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E162* is predicted to lead to a loss of Ezh2 protein function.
F673C missense unknown EZH2 F673C lies within the SET domain of the Ezh2 protein (UniProt.org). F673C has been identified in sequencing studies and predicted to have a medium functional impact (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
S21A missense gain of function EZH2 S21A lies within a interaction with DNMT1, DNMT3A and DNMT3B region of the Ezh2 protein (UniProt.org). S21A confers a gain of function to the Ezh2 protein, as demonstrated by increased global levels of H3K27 trimethylation (PMID: 23684459, PMID: 16224021) and is transforming in cell culture (PMID: 23684459, MID: 16224021).
E169D missense unknown EZH2 E169D lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). E169D has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
D233Y missense unknown EZH2 D233Y lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). D233Y has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
R653I missense unknown EZH2 R653I lies within the SET domain of the Ezh2 protein (UniProt.org). R653I has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
R355G missense unknown EZH2 R355G lies within the CDYL-interacting region of the Ezh2 protein (UniProt.org). R355G has been identified in sequencing studies and predicted to have a medium functional impact (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
T678_R679delinsKK deletion unknown EZH2 T678_R679delinsKK results in a deletion of two amino acids in the SET domain of the Ezh2 protein from amino acids 678 to 679, combined with the insertion of two lysines (K) at the same site (UniProt.org). T678_R679delinsKK has been demonstrated to confer Tazemetostat (EPZ-6438) resistance in culture (PMID: 28231254), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Jun 2018). Y
Y646N missense gain of function EZH2 Y646N (also reported as Y641N) lies within a SET domain of the Ezh2 protein (UniProt.org). Y646N confers a gain of function to the Ezh2 protein, as demonstrated by increased trimethylation at H3K27 (PMID: 22194861) and promotion of tumor growth in cell line derived xenograft models (PMID: 25493630).
F120L missense unknown EZH2 F120L lies within the DNMT1, DNMT3B, and DNMT3A-interacting regions of the Ezh2 protein (UniProt.org). F120L has been demonstrated to occur as a drug resistant mutation in the context of EZH2 Y111N (PMID: 28135235), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018). Y
E721D missense unknown EZH2 E721D lies within the SET domain of the Ezh2 protein (UniProt.org). E721D has been identified in sequencing studies and predicted to have a high functional impact (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
Y726* nonsense unknown EZH2 Y726* results in a premature truncation of the Ezh2 protein at amino acid 726 of 746 (UniProt.org). Y726* has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
Y111N missense unknown EZH2 Y111N lies within the D1 domain of the Ezh2 protein (PMID: 26360609). Y111N has been demonstrated as a secondary mutation confers resistance to Ezh2 inhibitors (PMID: 26360609), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Jun 2018). Y
W60* nonsense loss of function - predicted EZH2 W60* results in a premature truncation of the Ezh2 protein at amino acid 60 of 746 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W60* is predicted to lead to a loss of Ezh2 protein function.
N423T missense unknown EZH2 N423T lies within the CDYL-interacting region of the Ezh2 protein (UniProt.org). N423T has been identified in sequencing studies and predicted to be neutral (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
S229L missense unknown EZH2 S229L lies within the CDYL-interacting region of the Ezh2 protein (UniProt.org). S229L has been identified in sequencing studies (PMID: 22842228) and predicted to have a low functional impact (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
Y641S missense gain of function EZH2 Y641S lies within the SET domain of the Ezh2 protein (UniProt.org). Y641S confers a gain of function to the Ezh2 protein, as demonstrated by altered substrate specificity and increased catalytic efficiency for H3K27 trimethylation (PMID: 21190999, PMID: 21078963).
R288Q missense unknown EZH2 R288Q lies within the DNMT1, DNMT3A, and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). Ezh2 has been identified in sequencing studies (PMID: 24478400), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
R34L missense unknown EZH2 R34L lies within DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). R34L has been identified in sequencing studies and predicted to have a low functional impact (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
R216Q missense no effect - predicted EZH2 R216Q lies within DNMT1, DNMT3A and DNMT3B interaction region of the Ezh2 protein (UniProt.org). R216Q demonstrates H3K27 trimethylation at similar levels to wild-type Ezh2 in culture (PMID: 25609585) and therefore, is predicted to have no effect on the Ezh2 protein function.
Y111D missense unknown EZH2 Y111D lies within the D1 domain of the Ezh2 protein (PMID: 26360609). Y111D has been demonstrated as a secondary mutation confers resistance to Ezh2 inhibitors (PMID: 26360609), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Jun 2018). Y
R679S missense unknown EZH2 R679S lies within the SET domain of the Ezh2 protein (UniProt.org). R679S has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
Y641H missense gain of function EZH2 Y641H lies within the SET domain of the Ezh2 protein (UniProt.org). Y641H confers a gain of function to the Ezh2 protein, as demonstrated by altered substrate specificity, increased catalytic efficiency for H3K27 trimethylation (PMID: 21078963, PMID: 26735435), and aberrant regulation of members of the mTOR pathway (PMID: 26735435).
mutant unknown unknown EZH2 mutant indicates an unspecified mutation in the EZH2 gene.
R497Q missense unknown EZH2 R497Q lies within the CDYL-interacting region of the Ezh2 protein (UniProt.org). R497Q has been identified in sequencing studies (PMID: 26812882) and predicted to have a medium functional impact (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
H689A missense loss of function EZH2 H689A lies within the SET domain of Ezh2 (UniProt.org). H689A is a catalytic-activity dead mutant form of Ezh2 (PMID: 23684459, PMID: 15099518).
R18C missense unknown EZH2 R18C lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). R18C has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
Y641X missense gain of function EZH2 Y641X is any activating mutation at hotspot amino acid 641 of the Ezh2 protein, which increases the catalytic efficiency for H3K27me3 (PMID: 24362326).
G266E missense unknown EZH2 G266E does not lie within any known functional domains of the Ezh2 protein (UniProt.org). G266E has been identified in sequencing studies (PMID: 22237151), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
E396* nonsense loss of function - predicted EZH2 E396* results in a premature truncation of the Ezh2 protein at amino acid 396 of 746 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E396* is predicted to lead to a loss of Ezh2 protein function.
V577A missense unknown EZH2 V577A lies within the CXC domain of the Ezh2 protein (UniProt.org). V577A has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Sep 2018).
A687V missense gain of function EZH2 A687V lies within a SET domain of the Ezh2 protein (UniProt.org). A687V confers a gain of function on the Ezh2 protein, as demonstrated by enhanced methylation of downstream targets (PMID: 22850114), increased trimethylation of histone H3 (H3K27me3) and is transforming in cell culture (PMID: 25253781).
Molecular Profile Protein Effect Treatment Approaches
EZH2 M662T unknown
EZH2 Y646S gain of function
EZH2 Y646H gain of function - predicted
EZH2 K241Q unknown
EZH2 Y728* unknown
EZH2 N152fs loss of function - predicted
EZH2 R353C unknown
EZH2 over exp no effect
EZH2 E720K unknown
EZH2 R207Q unknown
EZH2 S21D gain of function EZH2 inhibitor
EZH2 C571Y unknown
EZH2 H530N unknown
EZH2 R213H unknown
EZH2 C576W loss of function - predicted
EZH2 A677G EZH2 I109K
EZH2 I109K unknown
EZH2 A677G EZH2 Y111D
EZH2 A677G gain of function EZH2 inhibitor
EZH2 C534fs loss of function - predicted
EZH2 Y646F gain of function EZH2 inhibitor
EZH2 R78H unknown
EZH2 positive unknown
KRAS G12S EZH2 pos
KRAS G12V EZH2 pos
KRAS G12D EZH2 pos
KRAS G12C EZH2 pos
EZH2 Y728Lfs*6 unknown
EZH2 E246* loss of function - predicted
EZH2 G5R unknown
EZH2 Q62K unknown
EZH2 A237S unknown
EZH2 Y641F gain of function EZH2 inhibitor
EZH2 Y111D EZH2 Y641F
EZH2 Q540P unknown
EZH2 wild-type no effect
EZH2 P746S unknown
EZH2 Q62R unknown
EZH2 D185H unknown
EZH2 Y641N gain of function EZH2 inhibitor
EZH2 G159R unknown
EZH2 K234N unknown
EZH2 act mut gain of function EZH2 inhibitor
EZH2 Y736C unknown
EZH2 E59* loss of function - predicted
EZH2 Y641C gain of function EZH2 inhibitor
EZH2 C530W unknown
EZH2 E740K unknown
EZH2 Y646C loss of function - predicted
EZH2 R685C loss of function - predicted
EZH2 E162* loss of function - predicted
EZH2 F673C unknown
EZH2 S21A gain of function
EZH2 E169D unknown
EZH2 D233Y unknown
EZH2 R653I unknown
EZH2 R355G unknown
EZH2 T678_R679delinsKK unknown
EZH2 Y646N gain of function EZH2 inhibitor
EZH2 F120L unknown
EZH2 F120L EZH2 Y111N
EZH2 E721D unknown
EZH2 Y726* unknown
EZH2 Y111N unknown
EZH2 W60* loss of function - predicted
EZH2 N423T unknown
EZH2 S229L unknown
EZH2 Y641S gain of function EZH2 inhibitor
EZH2 R288Q unknown
EZH2 R34L unknown
EZH2 R216Q no effect - predicted
EZH2 Y111D unknown
EZH2 Y111D SMARCB1 mut
EZH2 Y111D SMARCB1 inact mut
EZH2 R679S unknown
EZH2 Y641H gain of function EZH2 inhibitor
EZH2 mutant unknown
EZH2 R497Q unknown
EZH2 H689A loss of function
EZH2 R18C unknown
EZH2 Y641X gain of function EZH2 inhibitor
EZH2 G266E unknown
EZH2 E396* loss of function - predicted
EZH2 V577A unknown
EZH2 A687V gain of function EZH2 inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
EZH2 Y646S diffuse large B-cell lymphoma sensitive EED226 Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line harboring EZH2 Y646S demonstrated sensitivity to EED226, resulting in inhibition of cell proliferation in culture (PMID: 28135235). 28135235
EZH2 Y646H non-Hodgkin lymphoma sensitive Tazemetostat Phase I Actionable In a Phase I trial, Tazemetostat (EPZ-6438) treatment resulted in partial response for more than 16 weeks in a non-Hodgkin lymphoma patient harboring a EZH2 Y646H mutation (ASH 57th Annual Meeting and Exposition, Dec 2015, Abstract #473; NCT01897571). detail...
EZH2 over exp medulloblastoma predicted - sensitive MC3629 Preclinical - Cell line xenograft Actionable In a preclinical study, MC3629 decreased proliferation and induced apoptosis in human and mouse primary SHH-subgroup medulloblastoma (SHH-MB) derived stem-cell like cells expressing high EZH2 levels in culture, decreased viability of a human SHH-MB cell line expressing high EZH2 in culture, and increased apoptosis and decreased growth of human SHH-MB cell line derived stem-cell like cells in culture and in xenograft models (PMID: 28978137). 28978137
EZH2 over exp non-small cell lung carcinoma sensitive JQEZ5 Preclinical Actionable In a preclinical study, JQEZ5 inhibited proliferation of human EZH2-overexpressing non-small cell lung cancer cells in culture and induced tumor regression in mouse models of EZH2-overexpressing lung adenocarcinoma (PMID: 27312177). 27312177
EZH2 A677G EZH2 Y111D Advanced Solid Tumor resistant Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, transformed cells overexpressing EZH2 and carrying simultaneous A677G and Y111D mutations were resistant to Tazemetostat (EPZ-6438) in culture (PMID: 26360609). 26360609
EZH2 A677G EZH2 Y111D B-cell lymphoma resistant Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, EZH2 Y111D conferred resistance to Tazemetostat (EPZ-6438) when occurring in the same allele as EZH2 A677G in B-cell lymphoma cells in culture (PMID: 26360609). 26360609
EZH2 A677G EZH2 Y111D B-cell lymphoma resistant GSK126 Preclinical - Cell culture Actionable In a preclinical study, EZH2 Y111D conferred resistance to GSK126 when occurred in the same allele as EZH2 A677G in B-cell lymphoma cells in culture (PMID: 26360609). 26360609
EZH2 A677G EZH2 Y111D Advanced Solid Tumor resistant GSK126 Preclinical - Cell culture Actionable In a preclinical study, transformed cells overexpressing EZH2 and carrying simultaneous A677G and Y111D mutations were resistant to GSK126 in culture (PMID: 26360609). 26360609
EZH2 Y646F lymphoma sensitive Tazemetostat Preclinical Actionable In a preclinical study, treatment with EPZ-6438 inhibited proliferation and promoted cell death in lymphoma cells expressing EZH2 Y646F (PMID: 24563539). 24563539
EZH2 Y646F diffuse large B-cell lymphoma sensitive EED226 Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line harboring EZH2 Y646F demonstrated sensitivity to EED226, resulting in inhibition of cell proliferation in culture (PMID: 28135235). 28135235
EZH2 positive follicular lymphoma predicted - sensitive Tazemetostat Phase I Actionable In a Phase I trial, Tazemetostat (EPZ-6438) treatment in non-Hodgkin lymphoma (NHL) patients carrying wild-type EZH2 or an EZH2 Y646H mutation resulted in an objective response rate of 60% (3/5) among patients with follicular lymphoma (ASH 57th Annual Meeting and Exposition, Dec 2015, Abstract #473; NCT01897571). detail...
EZH2 positive non-Hodgkin lymphoma predicted - sensitive Tazemetostat Phase I Actionable In a Phase I trial, Tazemetostat (EPZ-6438) treatment resulted in a total response rate of 60% (9/15) in non-Hodgkin lymphoma patients harboring wild-type EZH2 (n=13/14 tested) or an EZH2 Y646H mutation (n=1/14 tested) (ASH 57th Annual Meeting and Exposition, Dec 2015, Abstract #473; NCT01897571). detail...
EZH2 positive diffuse large B-cell lymphoma predicted - sensitive Tazemetostat Phase I Actionable In a Phase I trial, Tazemetostat (EPZ-6438) treatment in non-Hodgkin lymphoma (NHL) patients carrying wild-type EZH2 or an EZH2 Y646H mutation resulted in an objective response rate of 56% (5/9) among patients with diffuse large B-cell lymphoma (ASH 57th Annual Meeting and Exposition, Dec 2015, Abstract #473; NCT01897571). detail...
KRAS G12S EZH2 pos lung adenocarcinoma sensitive DZNep + MK2206 Preclinical - Cell culture Actionable In a preclinical study, the addition of DZNep increased sensitivity to MK2206 in an EZH2-expressing lung adenocarcinoma cell line harboring KRAS G12S in culture (PMID: 26676756) 26676756
KRAS G12S EZH2 pos lung adenocarcinoma sensitive DZNep + Selumetinib Preclinical - Cell culture Actionable In a preclinical study, the addition of DZNep increased sensitivity to Selumetinib (AZD6244) in an EZH2-expressing lung adenocarcinoma cell line harboring KRAS G12S in culture (PMID: 26676756). 26676756
KRAS G12V EZH2 pos lung adenocarcinoma no benefit DZNep + Selumetinib Preclinical - Cell culture Actionable In a preclinical study, the addition of DZNep did not increase sensitivity to Selumetinib (AZD6244) in an EZH2-expressing lung adenocarcinoma cell line harboring KRAS G12V (PMID: 26676756). 26676756
KRAS G12V EZH2 pos lung adenocarcinoma no benefit DZNep + MK2206 Preclinical - Cell culture Actionable In a preclinical study, the addition of DZNep did not increase sensitivity to MK2206 in an EZH2-expressing lung adenocarcinoma cell line harboring KRAS G12V (PMID: 26676756). 26676756
KRAS G12D EZH2 pos lung adenocarcinoma no benefit Selumetinib + Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, the addition of Tazemetostat (EPZ-6438) did not increase sensitivity to Selumetinib (AZD6244) in an EZH2-expressing lung adenocarcinoma cell line harboring KRAS G12D (PMID: 26676756). 26676756
KRAS G12D EZH2 pos lung adenocarcinoma no benefit DZNep + Selumetinib Preclinical - Cell culture Actionable In a preclinical study, the addition of DZNep did not increase sensitivity to Selumetinib (AZD6244) in an EZH2-expressing lung adenocarcinoma cell line harboring KRAS G12D (PMID: 26676756). 26676756
KRAS G12D EZH2 pos pancreatic cancer sensitive DZNep + MK2206 Preclinical - Cell culture Actionable In a preclinical study, the addition of DZNep increased sensitivity to MK2206 in an EZH2-expressing pancreatic cancer cell line harboring KRAS G12D in culture (PMID: 26676756). 26676756
KRAS G12D EZH2 pos pancreatic cancer no benefit DZNep + Selumetinib Preclinical - Cell culture Actionable In a preclinical study, the addition of DZNep did not increase sensitivity to Selumetinib (AZD6244) in an EZH2-expressing pancreatic cancer cell line harboring KRAS G12D in culture (PMID: 26676756). 26676756
KRAS G12D EZH2 pos colon cancer no benefit DZNep + Selumetinib Preclinical - Cell culture Actionable In a preclinical study, the addition of DZNep did not increase sensitivity to Selumetinib (AZD6244) in an EZH2-expressing colon cancer cell line harboring KRAS G12D in culture (PMID: 26676756). 26676756
KRAS G12D EZH2 pos lung adenocarcinoma sensitive DZNep + MK2206 Preclinical - Cell line xenograft Actionable In a preclinical study, the addition of DZNep increased sensitivity to MK2206 in an EZH2-expressing lung adenocarcinoma cell line harboring KRAS G12D in culture and in xenograft models, resulting in decreased cell survival and tumor growth (PMID: 26676756). 26676756
KRAS G12D EZH2 pos lung adenocarcinoma no benefit GSK343 + Selumetinib Preclinical - Cell culture Actionable In a preclinical study, the addition of GSK343 did not increase sensitivity to Selumetinib (AZD6244) in an EZH2-expressing lung adenocarcinoma cell line harboring KRAS G12D (PMID: 26676756). 26676756
KRAS G12D EZH2 pos lung adenocarcinoma sensitive GSK343 + MK2206 Preclinical - Cell culture Actionable In a preclinical study, the addition of GSK343 increased sensitivity to MK2206 in an EZH2-expressing lung adenocarcinoma cell line harboring KRAS G12D in culture (PMID: 26676756). 26676756
KRAS G12D EZH2 pos colon cancer sensitive DZNep + MK2206 Preclinical - Cell culture Actionable In a preclinical study, the addition of DZNep increased sensitivity to MK2206 in an EZH2-expressing colon cancer cell line harboring KRAS G12D in culture (PMID: 26676756). 26676756
KRAS G12D EZH2 pos lung adenocarcinoma sensitive MK2206 + Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, the addition of Tazemetostat (EPZ-6438) increased sensitivity to MK2206 in an EZH2-expressing lung adenocarcinoma cell line harboring KRAS G12D in culture (PMID: 26676756). 26676756
KRAS G12C EZH2 pos pancreatic cancer sensitive DZNep + Selumetinib Preclinical - Cell culture Actionable In a preclinical study, the addition of DZNep increased sensitivity to Selumetinib (AZD6244) in an EZH2-expressing pancreatic cancer cell line harboring KRAS G12C in culture (PMID: 26676756). 26676756
KRAS G12C EZH2 pos lung adenocarcinoma sensitive DZNep + Selumetinib Preclinical - Cell line xenograft Actionable In a preclinical study, the addition of DZNep increased sensitivity to Selumetinib (AZD6244) in EZH2-expressing lung adenocarcinoma cell lines harboring KRAS G12C, in culture and in xenograft models, resulting in decreased cell survival and tumor growth (PMID: 26676756). 26676756
KRAS G12C EZH2 pos lung adenocarcinoma sensitive GSK343 + Selumetinib Preclinical - Cell culture Actionable In a preclinical study, the addition of GSK343 increased sensitivity to Selumetinib (AZD6244) in EZH2-expressing lung adenocarcinoma cell lines harboring KRAS G12C in culture (PMID: 26676756). 26676756
KRAS G12C EZH2 pos lung adenocarcinoma no benefit DZNep + MK2206 Preclinical - Cell culture Actionable In a preclinical study, the addition of DZNep did not increase sensitivity to MK2206 in an EZH2-expressing lung adenocarcinoma cell line harboring KRAS G12C (PMID: 26676756). 26676756
KRAS G12C EZH2 pos lung adenocarcinoma no benefit MK2206 + Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, the addition of Tazemetostat (EPZ-6438) did not increase sensitivity to MK2206 in an EZH2-expressing lung adenocarcinoma cell line harboring KRAS G12C in culture (PMID: 26676756). 26676756
KRAS G12C EZH2 pos lung adenocarcinoma no benefit GSK343 + MK2206 Preclinical - Cell culture Actionable In a preclinical study, the addition of GSK343 did not increase sensitivity to MK2206 in an EZH2-expressing lung adenocarcinoma cell line harboring KRAS G12C in culture (PMID: 26676756). 26676756
KRAS G12C EZH2 pos lung adenocarcinoma sensitive Selumetinib + Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, the addition of Tazemetostat (EPZ-6438) increased sensitivity to Selumetinib (AZD6244) in EZH2-expressing lung adenocarcinoma cell lines harboring KRAS G12C in culture (PMID: 26676756). 26676756
KRAS G12C EZH2 pos pancreatic cancer sensitive DZNep + MK2206 Preclinical - Cell culture Actionable In a preclinical study, the addition of DZNep increased sensitivity to MK2206 in an EZH2-expressing pancreatic cancer cell line harboring KRAS G12C in culture (PMID: 26676756). 26676756
EZH2 Y641F lymphoma sensitive EPZ005687 Preclinical - Cell culture Actionable In a preclinical study, treatment with EPZ005687 decreased proliferation and induced cell killing in a lymphoma cell line harboring EZH2 Y641F in culture (PMID: 23023262). 23023262
EZH2 Y111D EZH2 Y641F Advanced Solid Tumor decreased response Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing EZH2 carrying simultaneous Y641F and Y111D mutations demonstrated reduced sensitivity to Tazemetostat (EPZ-6438) in culture (PMID: 26360609). 26360609
EZH2 Y111D EZH2 Y641F Advanced Solid Tumor predicted - resistant GSK126 Preclinical - Cell culture Actionable In a preclinical study, transformed cells overexpressing EZH2 and carrying simultaneous Y641F and Y111D mutations demonstrated reduced sensitivity to GSK126 in culture (PMID: 26360609). 26360609
EZH2 wild-type melanoma predicted - sensitive GSK126 Preclinical - Cell culture Actionable In a preclinical study, GSK126 inhibited H3K27 trimethylation in human melanoma cells harboring wild-type EZH2 in culture (PMID: 26936398). 26936398
EZH2 Y641N diffuse large B-cell lymphoma sensitive EED226 + EI1 Preclinical - Cell culture Actionable In a preclinical study, EED226 and EI1 synergistically inhibited cell proliferation in a diffuse large B-cell lymphoma cell line harboring EZH2 Y641N in culture (PMID: 28135235). 28135235
EZH2 Y641N diffuse large B-cell lymphoma no benefit GSK126 Preclinical - Cell culture Actionable In a preclinical study, GSK126 alone did not alter cell-cycle progression in survival in a diffuse large B-cell lymphoma cell line harboring EZH2 Y641N in culture (PMID: 25605023). 25605023
EZH2 Y641N diffuse large B-cell lymphoma predicted - sensitive DZNeP Preclinical - Cell culture Actionable In a preclinical study, DZNeP treatment resulted in an increase in the number of dead or sub-G1 cells and increased DNA damage in a diffuse large B-cell lymphoma cell line harboring EZH2 Y641N in culture (PMID: 25605023). 25605023
EZH2 Y641N diffuse large B-cell lymphoma sensitive ACY-957 + GSK126 Preclinical - Cell culture Actionable In a preclinical study, GSK126 enhanced the sensitivity of ACY-957 treatment in DLBCL cells harboring EZH2 Y641N in culture, resulting in increased cell death and elevated levels of H3K27ac (PMID: 25605023). 25605023
EZH2 Y641N diffuse large B-cell lymphoma sensitive UNC1999 Preclinical Actionable In a preclinical study, UNC1999 treatment reduced H3K27me3 levels, decreased proliferation, and increased cell death in diffuse large B-cell lymphoma cells harboring an EZH2 Y641N mutation in cell culture (PMID: 23614352). 23614352
EZH2 Y641N diffuse large B-cell lymphoma sensitive ACY-957 + Doxorubicin Preclinical Actionable In a preclinical study, DLBCL cells harboring EZH2 Y641N treated with the combination of ACY-957 and Adriamycin (doxorubicin) resulted in a greater sensitivity to cell death compared to treatment with either agent alone (PMID: 25605023). 25605023
EZH2 Y641N melanoma predicted - sensitive GSK126 Preclinical - Cell culture Actionable In a preclinical study, GSK126 inhibited H3K27 trimethylation and reversed transcriptional silencing in human melanoma cells harboring EZH2 Y641N in culture (PMID: 26936398). 26936398
EZH2 Y641N diffuse large B-cell lymphoma sensitive ACY-957 Preclinical Actionable In a preclinical study, DLBCL cells harboring EZH2 Y641N demonstrated sensitivity to ACY-957 in culture, resulting in increased levels of H3K27ac and cell cycle arrest (PMID: 25605023). 25605023
EZH2 Y641N diffuse large B-cell lymphoma sensitive ACY-957 + DZNeP Preclinical Actionable In a preclinical study, DZNeP enhanced the sensitivity of ACY-957 treatment in DLBCL cells harboring EZH2 Y641N in culture, resulting in increased cell death and elevated levels of H3K27ac (PMID: 25605023). 25605023
EZH2 Y641N diffuse large B-cell lymphoma sensitive EED226 Preclinical - Cell line xenograft Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line harboring EZH2 Y641N demonstrated sensitivity to EED226, resulting in inhibition of cell proliferation in culture and delayed tumor growth and tumor regression in a cell line xenograft model (PMID: 28135235). 28135235
EZH2 Y641N diffuse large B-cell lymphoma sensitive Vorinostat Preclinical Actionable In a preclinical study, DLBCL cells harboring EZH2 Y641N demonstrated sensitivity to Zolinza (vorinostat) in culture, resulting in increased levels of H3K27ac and cell cycle arrest (PMID: 25605023). 25605023
EZH2 T678_R679delinsKK acute myeloid leukemia resistant Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, a murine acute myeloid leukemia cell line expressing EZH2 T678_R679delinsKK were resistant to Tazemetostat (EPZ-6438) in culture (PMID: 28231254). 28231254
EZH2 Y646N melanoma sensitive GSK126 Preclinical - Cell culture Actionable In a preclinical study, GSK126 treatment inhibited cell growth via suppression of downstream tumor suppressor gene targets and induced apoptosis in melanoma cells harboring EZH2 Y646N in culture (PMID: 26304929). 26304929
EZH2 Y646N diffuse large B-cell lymphoma sensitive EED226 Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line harboring EZH2 Y646N demonstrated sensitivity to EED226, resulting in inhibition of cell proliferation in culture (PMID: 28135235). 28135235
EZH2 F120L EZH2 Y111N diffuse large B-cell lymphoma resistant EI1 Preclinical - Cell culture Actionable In a preclinical study, diffuse large B-cell lymphoma cells co-expressing EZH2 F120L and EZH2 Y111N were resistant to EI1 in culture, demonstrating no inhibition of cell proliferation (PMID: 28135235). 28135235
EZH2 F120L EZH2 Y111N diffuse large B-cell lymphoma sensitive EED226 Preclinical - Cell culture Actionable In a preclinical study, diffuse large B-cell lymphoma cells co-expressing EZH2 F120L and EZH2 Y111N were sensitive to EED226, demonstrating inhibition of cell proliferation in culture (PMID: 28135235). 28135235
EZH2 F120L EZH2 Y111N Advanced Solid Tumor resistant Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, a cancer cell line co-expressing EZH2 F120L and EZH2 Y111N was resistant to Tazemetostat (EPZ-6438) in culture, demonstrating no inhibition of cell proliferation (PMID: 28135235). 28135235
EZH2 Y641S diffuse large B-cell lymphoma sensitive Vorinostat Preclinical Actionable In a preclinical study, DLBCL cells harboring EZH2 Y641S demonstrated sensitivity to Zolinza (vorinostat) in culture, resulting in increased levels of H3K27ac and cell cycle arrest (PMID: 25605023). 25605023
EZH2 Y641S melanoma predicted - sensitive GSK126 Preclinical - Cell culture Actionable In a preclinical study, GSK126 reversed transcriptional silencing in human melanoma cells harboring wild-type EZH2 Y641S in culture (PMID: 26936398). 26936398
EZH2 Y641S diffuse large B-cell lymphoma decreased response GSK126 Preclinical - Cell culture Actionable In a preclinical study, treatment with GSK126 did not alter cell-cycle progression or decrease survival in a diffuse large B-cell lymphoma cell line harboring EZH2 Y641S in culture (PMID: 25605023). 25605023
EZH2 Y641S diffuse large B-cell lymphoma sensitive ACY-957 Preclinical Actionable In a preclinical study, DLBCL cells harboring EZH2 Y641S demonstrated sensitivity to ACY-957 in culture, resulting in increased levels of H3K27ac and cell cycle arrest (PMID: 25605023). 25605023
EZH2 Y641S diffuse large B-cell lymphoma sensitive ACY-957 + DZNeP Preclinical Actionable In a preclinical study, DZNeP enhanced the sensitivity of ACY-957 treatment in DLBCL cells harboring EZH2 Y641S in culture, resulting in increased cell death and elevated levels of H3K27ac (PMID: 25605023). 25605023
EZH2 Y641S diffuse large B-cell lymphoma decreased response DZNeP Preclinical - Cell culture Actionable In a preclinical study, treatment with DZNeP resulted in a slight increase in number of dead or sub-G1 cells and accumulation of DNA damage in a diffuse large B-cell lymphoma cell line harboring EZH2 Y641S in culture (PMID: 25605023). 25605023
EZH2 Y641S diffuse large B-cell lymphoma sensitive ACY-957 + GSK126 Preclinical - Cell culture Actionable In a preclinical study, GSK126 enhanced the sensitivity of ACY-957 treatment in DLBCL cells harboring EZH2 Y641S in culture, resulting in increased cell death and elevated levels of H3K27ac (PMID: 25605023). 25605023
EZH2 Y111D Advanced Solid Tumor resistant GSK126 Preclinical - Cell culture Actionable In a preclinical study, over expression of EZH2 Y111D in transformed cells harboring wild-type Ezh2 resulted in resistance to GSK126 treatment in culture (PMID: 26360609). 26360609
EZH2 Y111D Advanced Solid Tumor resistant Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, over expression of EZH2 Y111D in transformed cells harboring wild-type Ezh2 resulted in resistance to Tazemetostat (EPZ-6438) treatment in culture (PMID: 26360609). 26360609
EZH2 Y111D SMARCB1 inact mut rhabdoid cancer resistant Tazemetostat Preclinical - Cell culture Actionable In a preclinical study, over expression of EZH2 Y111D in rhabdoid tumor cells harboring an SMARCB1 inactivating mutation resulted in resistance to Tazemetostat (EPZ-6438) treatment in culture (PMID: 26360609). 26360609
EZH2 Y641H melanoma predicted - sensitive GSK126 Preclinical - Cell culture Actionable In a preclinical study, GSK126 inhibited H3K27 trimethylation and reversed transcriptional silencing in human melanoma cells harboring EZH2 Y641H in culture (PMID: 26936398). 26936398
EZH2 mutant diffuse large B-cell lymphoma sensitive A-395 Preclinical - Cell line xenograft Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line harboring an EZH2 mutation demonstrated sensitivity to A-395, showing inhibition of tumor growth, however, due to its chemical properties A-395 will not proceed to clinical development (PMID: 28135237). 28135237
EZH2 mutant myelofibrosis not applicable N/A Guideline Prognostic EZH2 mutations are associated with inferior overall survival in patients with myelofibrosis (NCCN.org). detail...
EZH2 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic EZH2 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
EZH2 mutant essential thrombocythemia not applicable N/A Guideline Prognostic The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SF3B1, EZH2, or TP53 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org). detail...
EZH2 mutant myelodysplastic/myeloproliferative neoplasm not applicable N/A Guideline Prognostic EZH2 mutations are associated with a poor prognosis in patients with myelodysplastic/myeloproliferative neoplasm (NCCN.org). detail...