Table 2.
Summary of mutational analysis of the studied genes in osteosarcoma.
| Gene | Exon | Codon | Nucleotide change | Mutation status |
|---|---|---|---|---|
| hMSH2 | 1 | 45 | 134 del of 29bp | frameshift |
| 8 | 453 | A1358-------T | Splice site------30bp deletion | |
| 15 | 878 | 2633 del (AG) | Frameshift | |
| 7 | 389 | C1165-----T | Arg------Stop codon | |
|
| ||||
| MLH1 | 12 | 397 | 1190 del (T) | Frameshift |
|
| ||||
| BRCA1 | 11 | 64 | TGT-GGT | Missense |
| 392 | 1294–1333 del | Frameshift | ||
| 1443 | CGA-GGA | Missense | ||
| 1773 | ACCC-ACCCC (ins) | Frameshift | ||
|
| ||||
| P53 | 4 | 72 | GGC-CCC | Missense |
| 5 | 126 | TAC-TAG | STOP CODON | |
| 5 | 175 | CGC-CAC | Missense | |
| 5 | 163 | TAC-AAC | Missense | |
| 5 | 161 | 1bp insertion | Frameshift | |
| 6 | 205 | TAT-CAT | Missense | |
| 7 | 241 | TCC-TTC | Missense | |
| 7 | 245 | GGC-AGC | Missense | |
| 8 | 3′+GT-GG | Frameshift | ||