Table 2.

Relationship of E2-ESR1 to AML driver genes

Point mutations
GenesChromoSubstitutionIndel <200 bpTotalE2-ESR1 regulationReferences
FLT313222339561E2-ESR1 upregulates FLT3(57)
NPM150432432E2-ESR1 upregulates NPM1(58)
DNMT3Aa234629375
NRAS12890289E2-ESR1 upregulates NRAS(4)
TET2412181202
IDH2151500150
RUNX1217870148RUNX1 is ESR1 corepressor(38)
CEBPA1927103130
PTPN11 (SHP2)121290129E2-ESR1 upregulates SHP2(59)
TP53171036109Cross-talk(18)
IDH121040104
SRSF217692291
WT111562480WT1 binds to ESR1(60)
KRAS1279079E2-ESR1 downregulates KRAS(53)
MLL (KMT2A)1117677
ASXL120363470ESR1-ASXL1 binding(49)
KIT469069
STAG223432467
RAD218312354
EZH2741647E2-ESR1 upregulates EZH2(61)
PHF623361046
CBL1142042
NF117192140
SF3B1239039
U2AF12137037
GATA2337037
BCOR23171835
MYC828028E2-ESR1 upregulates MYC(4)
EP3002219423EP300 is ESR1 coactivator(62)
ETV612121022
KDM5A1212113
MLL2 (KMT2D)1210313MLL2 is ESR1 coactivator(35)
ZRSR2238513
KDM6A2311112
MLL3 (KMT2C)75510MLL3 is ESR1 coactivator(22)
JAK2910010E2-ESR1 upregulates JAK2(63)
FBXW74909
BRAF7909
CREBBP16909CREBBP is ESR1 coactivator(36)
ATRX23606
CUX17325
RB113505RB1 controls ESR1 activity(25)
MPL1303
MLL5 (KMT2E)7213
PTEN10303E2-ESR1 downregulates PTEN(24)
PRPF40B12303
CDKN2A9202
SF111202
U2AF219202
GNAS20202
CBLB3101E2-ESR1 downregulates CBLB(5)
IKZF17101
SH2B312101
SF3A122101
240013503833
  • aDriver genes listed in bold are shared with breast cancer.