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Table 1 Studies reporting germline RUNX1 mutations in FPD/AML

From: Preleukemic and second-hit mutational events in an acute myeloid leukemia patient with a novel germline RUNX1 mutation

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.