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Table 2 Mutations found in factors associated with enhancer function

From: Enhancer alterations in cancer: a source for a cell identity crisis

Cancer type(s)

Mutation

Reference(s)

Burkitt’s lymphoma

IGH/MYC translocation

[109]

Melanoma, central nervous system, bladder, thyroid

TERT promoter

[112]-[116]

Breast, prostate

FOXA1

[121],[122]

AML, myelodysplastic syndromes

GATA2

[123]

Breast, lung

GATA3

[122],[124]-[127]

AML, breast, urothelial

RUNX1

[122],[127],[128]

Bladder, head and neck, lung, urothelial, breast

MLL2/MLL3/MLL4

[122],[127],[129]

B-cell lymphoma, lung

EZH2

[122],[127],[130]

AML, lung

DNMT3A

[122],[127],[131]

AML, bladder, lung, urothelial

TET2

[122],[127],[132]

Urothelial, bladder, breast, head and neck

CTCF

[122],[127],[133]

Bladder, glioblastoma, lung, urothelial

STAG2

[122],[127],[134]

Bladder, urothelial, AML

SMC1A

[122],[127],[135]

Bladder, AML, lung

SMC3

[122],[127],[135]

Lung, AML

RAD21

[122],[127]

Transitional cell carcinoma

NIPBL

[135]

Prostate, adrenocortical, uterine leiomyoma

MED12

[121],[127],[136],[137]

  1. AML, acute myeloid leukemia.