Table 1.

Studies reporting germline RUNX1 mutations in FPD/AML

Year	Reference	Key Findings
1999	Song et al. [6]	Detection of heterozygous RUNX1 mutations in six FPD/AML pedigrees, mostly found within the Runt domain.
2001	Buijs et al. [10]	A novel missense mutation identified in RUNX1 Runt domain in FPD/AML.
2002	Walker et al. [8]	A novel heterozygous point mutation (A107P) identified in RUNX1 Runt domain in FPD/AML.
2002	Michaud et al. [7]	Three new heterozygous RUNX1 point mutations reported in FPD/AML, including the first familial RUNX1 mutation outside the Runt domain, in the C-terminal.
2005	Heller et al. [39]	A novel RUNX1 C-terminal point mutation identified in one FPD/AML pedigree.
2008	Beri-Dexheimer et al. [15]	Two novel germline RUNX1 mutations reported, including a heterozygous 8-bp deletion (c.442_449del) identified in FPD/AML.
2008	Owen et al. [40]	5 new cases of germline RUNX1 mutations reported in FPD/AML, including 3 N-terminal and 2 C-terminal mutations.
2009	Preudhomme et al. [24]	Detection of 4 germline RUNX1 mutations in 4 FPD/AML families, mostly within the Runt domain. Most importantly, this is the first report of second-hit RUNX1 somatic mutations identified in germline RUNX1-mutant AML.