Table 1.

Mutations in the H3K27 methylation modifiers

Gene	Tumor type	Mutations	Functional alteration	References
EZH2	Hematological malignancies (B-cell lymphoma, myelodysplastic syndrome, T-ALL, follicular lymphoma etc.)	Y641F, A677G, A687V, I646F, R679H, N688Y, R690H, Y733X, etc.	Gain- or loss-of-function	[95–105]
	Parathyroid tumor Melanoma	Y641N, R216Q, A226V, G464E, K515R, Y646F, Y646N, Y646S, G709S etc.	Gain-of-function Gain-of-function or non-synonymous	[106–109]
	Hepatocellular carcinoma Pediatric cancer	G553C, S695L, A682G, N675K, Y646C etc.	Gain-of-function or unknown	[110]
EED	Myelodysplastic syndrome myeloproliferative neoplasm	G255D	Loss-of-function	[103]
	T-ALL	S259F, N286sf, R436C	Unknown	[111]
SUZ12	Myelodysplastic syndrome myeloproliferative neoplasm	F603L, D605V, E610G	Loss-of-function	[103]
	T-ALL	S369sf, S568fs	Unknown	[111]
KDM6A	Bladder cancer	D336G, P996R, Y1114S, Y1173N, G1223D etc.	Loss-of-function Unknown	[112–114]
	Multiple cancers (AML colon cancer, renal cell carcinoma etc.)	R172X, E216X, Q333X, Q541X, Q667X, etc.	Loss-of-function Unknown	[115]
	Adenoid cystic carcinoma	T1002A, G1140E, I1267V, G1335L, L1375P	Loss-of-function Unknown	[116]
	Pancreatic cancer	P428S, D1216N, E1290K, A269fs, L231fs, L1288fs etc.	Loss-of-function or Unknown	[117, 118]
	T-ALL	Q692*	Unknown
KDM6B	T- and NK-cell post-transplant lymphoproliferative disorders	P1682S, L251S	Unknown	[119]

T-ALL, T-cell acute lymphoblastic leukemia; AML, acute myeloid leukemia, Q692*, * represents a nonsense substitution at amino acid 692