Table 2.
Sequence variations of PTEN in first and relapse glioblastomas
| PTEN sequence variations | ||||
|---|---|---|---|---|
| Case | Sequence variation | Mutation effect | Aminoacid substitution | Distribution |
| G1p | c.44C>T | GGC→GGT | Gly→Gly | Bladder cancer [39] |
| c.105G>T | TGT→TTT | Cys→Phe | Gliomas [38] | |
| G1r | c.44C>T | GGC→GGT | Gly→Gly | Bladder cancer [39] |
| c.105G>T | TGT→TTT | Cys→Phe | Gliomas [38] | |
| G2p | c.177A>G | TAT→TGT | Tyr→Cys | Not described mutation |
| IVS8+32G>T |
Validated polymorphism Cowden/Bannayan-Riley syndromes [40] |
|||
| G2r | c.177A>G | TAT→TGT | Tyr→Cys | Not described mutation |
| IVS8+32G>T |
Validated polymorphism Cowden/Bannayan-Riley syndromes [40] |
|||
| G4 | c.105G>T | TGT→TTT | Cys→Phe | Gliomas [38] |
| IVS8+32G>T |
Validated polymorphism Cowden/Bannayan-Riley syndromes [40] |
|||
| G4r | c.105G>T | TGT→TTT | Cys→Phe | Gliomas [38] |
| IVS8+32G>T |
Validated polymorphism Cowden/Bannayan-Riley syndromes [40] |
|||
| G5p | IVS5-28_29ins C | Not described polymorphism | ||
| IVS2-96A>G | Not described polymorphism | |||
| G5r | IVS5-28_29ins C | Not described polymorphism | ||
| c.88A>G | TAT→TGT | Tyr→Cys | Head neck squamous cell cancer [42] | |
| G11p | IVS5-28_29ins C | Not described polymorphism | ||
| G11r | IVS5-28_29ins C | Not described polymorphism | ||
| c.88A>G | TAT→TGT | Tyr→Cys | Head & neck squamous cell cancer [42] | |
| IVS8-2A>G | Splice mutation | Not described mutation | ||
| G13p | IVS5-28_29ins C | Not described polymorphism | ||
| G13r | IVS5-28_29ins C | Not described polymorphism | ||
| IVS8-2A>G | Splice mutation | Not described mutation | ||
| c.75C>A | CAT→AAT | His→Asn | Not described mutation | |
| G17p | IVS4 109_110 ins TCTTA |
Validated polymorphism Cowden/Bannayan-Riley syndromes [40] |
||
| c.177A>G | TAT→TGT | Tyr→Cys | Not described mutation | |
| G17r | IVS4 109_110 ins TCTTA |
Validated polymorphism Cowden/Bannayan-Riley syndromes [40] |
||
| c.177A>G | TAT→TGT | Tyr→Cys | Not described mutation | |
| IVS5-28_29ins C | Not described polymorphism | |||
| G19p | IVS8+32G>T |
Validated polymorphism Cowden/Bannayan-Riley syndromes [40] |
||
| G19r | IVS8+32G>T |
Validated polymorphism Cowden/Bannayan-Riley syndromes [40] |
||
| c.252A>G | GAT→GGT | Asp→Gly | Glioma [43] | |