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 3Â 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. |