TABLE 1.
Gene | Region | Frequency (%) current study | Frequency (%) literature | References |
---|---|---|---|---|
NF2 | cds | 43 | 43 | [6] |
AKT1 | E17K | 15 | 5–13.6 [30] | [6, 7] ([11]) |
TRAF7 | cds | 13 | 20–28.9 | [7, 19] |
PIK3CA | cds | 10 | 6 | [8] |
KLF4 | K409Q | 6 | 8.8 | [7] |
SMO | L412F, W535L | 6 | 5 [28] | [6] ([10]) |
SUFU | cds | 6 | Somatic rare | [7] |
PIK3R1 | cds | 3 | 0.6 | [7] |
SMARCE1 | cds | 1 | rare | [20] |
SMARCB1 | cds | 1 | 6 | [6, 8] |
TERT | C228T, C250T | 1 | 6.4 | [21] |
POLR2A | hotspots | 0 | 6 | [8] |
CDKN2A/B | cds | 0 | 5 | [18] |
BAP1 | cds | 0 | Somatic rare | [22] |
Abbreviation: cds, coding DNA sequence and splice sites.