Table 1.

Genetic alterations of hematopoietic TFs predisposing to B-ALL development

	Risk	Gene	Mutation type	Consequence	Tumor type
	Low-penetrance susceptibility	CEBPE	Intronic SNP	Dysregulation	B-ALL
		GATA3	Intronic SNP	Dysregulation	Ph+
		IKZF1	Intronic SNP, 3′UTR SNP	Dysregulation	B-ALL
		ERG
		ARID5B	Intronic SNP	Dysregulation	Hyperdiploid
		IKZF3
	High-penetrance susceptibility	ETV6	Missense	Loss of function
		IKZF1	Missense	Loss of function
		PAX5	Missense	Lower transcriptional activity
	High-penetrance somatic variants	ETV6	Gene fusion	Transcriptional dysregulation	ETV6–RUNX1+ pre–B-ALL
			CNA and/or missense	Loss of function
		TCF3	Gene fusion	Transcriptional dysregulation	TCF3–PBX1+ pre–B-ALL
		ZNF384	Gene fusion	Transcriptional dysregulation
		MEF2D	Gene fusion	Transcriptional dysregulation
		CEBPE	CNA and/or missense	Loss of function
		GATA3	CNA and/or missense	Loss of function
		IKZF1	CNA and/or missense	Loss of function
		ERG	CNA and/or missense	Loss of function
		PAX5	Gene fusions	Loss of function
		IKZF3	CNA and/or missense	Loss of function
		EBF1	CNA and/or missense	Loss of function
		BTG1	CNA and/or missense	Loss of function

Abbreviations: CNA, copy-number alteration; Ph, Philadelphia chromosome; UTR, unstranslated region.