Table 1. Cases of diffuse anaplastic WT with TP53 mutations.
| Sample | Trial | Copy number at TP53 locus | Exon | Mutation (annotation in Hg19) |
| Frameshift deletion | ||||
| 1149 | COG | Loss | 10 | g.7573999-7574008het_delTGTTCCGAGA |
| 3036 | COG | Loss | 10 | g.7574000-7574006delTTCCGAG |
| 3048 | COG | Loss | 10 | g.7574013-7574013het_delC |
| Frameshift insertion | ||||
| 3477 | SIOP | Loss | 11 | g.7572933-7572933dupA |
| Nonframeshift deletion | ||||
| 2557 | SIOP | Loss | 5 | g.7578447-7578447dupCATCTACAAGCAGTCACAGCACATGAC |
| 1144 | COG | Loss | 6 | g.7578275-7578277delCTC |
| 1133 | COG | Loss | 10 | g.7574026-7574026dupGGCGTG |
| Nonsynonymous SNV | ||||
| 3044 | COG | Loss | 5 | g.7578406-7578406G>GA¥ |
| 3047 | COG | Loss | 5 | g.7578457-7578457G>GC |
| 3052 | COG | Loss | 5 | g.7578526-7578526G>GT |
| 3056 | COG | Loss | 5 | g.7578413-7578413G>A¥ |
| 3143 | SIOP | Loss | 5 | g.7578394-7578394A>C¥ |
| 1142 | COG | Loss | 8 | g.7577120-7577120G>GA¥ |
| 1706 | SIOP | Loss | 8 | g.7577120-7577120G>GA¥ |
| 2967 | SIOP | Loss | 8 | g.7577129-7577129T>TG |
| 1134† | COG | Loss | 8 | g.7577118-7577118G>GT¥ |
| 1134† | COG | Loss | 8 | g.7577095-7577095C>CA |
| 1145* | COG | Normal | 8 | g.7577124C>T¥ |
| 3041 | COG | Loss | intronic | g.7578298-7578308delCCTCACTGATT |
| 1135 | COG | Normal | intronic | g.7578296-7578305het_delTCACTGATTG |
| 9533 | SIOP | Unknown | 10 | g.7574002C>G¥ |
| Stopgain SNV | ||||
| 4718 | SIOP | Loss | 6 | g.7578212-7578212C>CT¥ |
| 1136 | COG | Loss | 10 | g.7574003-7574003C>T¥ |
| 3145* | SIOP | Loss | 6 | g.7578263-7578263G>A¥ |
SNV: Single Nucleotide Variation.
†
: Case that had two mutations together with TP53 loss.
*Cases identified by deep-sequencing.
¥
Mutations found in Li Fraumeni patients (IARC TP53 Database, R17).