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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.