Table 1 Summary of genetic mutations in epigenetic writer-reader-eraser proteins or histones in MM

Mutations epigenetic writer, reader, or eraser enzymes

Epigenetic activity, mutation info

Loss of function (LOF)

Gain of function (GOF)

References

DNMT3A, TET2

DNA (hydroxy)methylation, LOF

Reduced overall patient survival

[17, 40]

ARID1A/2/4A/5B

SWI-SNF chromatin remodelling, LOF

[17]

CHD2/4

Chromodomain, missense, frameshift mutations, LOF

[17]

SETD2/B2

Histone H3K9 methylase, LOF

[17]

UTX/KDM6A

Histone H3K27 demethylase, missense mutations, LOF

Reduced overall patient survival

[17, 154]

UTY

Histone H3K27demethylase, LOF

[154]

EZH2

Histone H3K27 methylase, LOF

[155]

MMSET/NSD2/WHSC1

Histone H3K36K27 (de)methylase, translocation, point mutations, LOF/GOF

[156, 157]

MLL1/2/3/4/5

Histone H3K4 methylase, missense/nonsense/frameshift/splice-site mutations, LOF

[53]

EHMT2

Histone H3K9 methylase,

missense mutations

[17]

KDM3B

Histone H3K9 demethylase, missense/nonsense/splice-site mutations

[17]

EP300/CREBBP

Histone acetylase, missense/nonsense/frameshift mutations, LOF

[17]

Histone mutations

Histone variant

Reference

HIST1H1B/C/D/E

Core/linker histone,

missense mutations,

frameshift insertion/deletion mutations

[17]