Table 2 The pathogenic germline mutations found in our study and their geographical distribution
Genes | n° mutated cases | Central Italy | South Italy | Pathogenic variants |
|---|---|---|---|---|
CDKN2A | 8 | 5 | 3 | p.G23S, p.A36T, p.A60V, p.R80*, p.R24P |
ATM | 31 | 10 | 21 | p.D1853N, p.D1853V, p.L2523 M, p.L2523 fs, p.L259F, p.K2811 fs, p.F1463C, p.F858 L, p.P1054R, p.P604S, |
BAP1 | 21 | 0 | 21 | p.I643T |
MC1R | 57 | 16 | 41 | p.R151C, p.R160W, p.D294H, p.D84E, p.Y152T*, p.V60 L, p.V92 M |
PALB2 | 7 | 0 | 7 | p.L1006*, p.P812S, |
TYR | 6 | 4 | 2 | p.R402Q, p.P406L |
Total | 130 | 35 | 95 | Â |