Table 1.
Patient no. | Age at diagnosis, y | Genomic no.* | Predicted amino acid no.† | Location | Predicted effect‡ | Predicted TP53 function‡ | Disease stage at presentation | Initial treatment | PFS, mo | OS, y |
---|---|---|---|---|---|---|---|---|---|---|
1 | 45 | g.13216 T>A | p.H179Q | Exon 5 | Missense | Nonfunctional | IIe | Single-agent chemotherapy | 10 | 7.7 |
2 | Not known | g.14028 A>G | p.Y234C | Exon 7 | Missense | Nonfunctional | Not known | Multiagent chemotherapy | 53 | 4.5 |
3 | 47 | g.14057 G>A | p.G244S | Exon 7 | Missense | Nonfunctional | III | Multiagent chemotherapy radiotherapy | 11 | 5.0 |
4 | 71 | g.14060 G>A | p.G245S | Exon 7 | Missense | Nonfunctional | II | Radiotherapy | 21 | 11.9 |
5 | 64 | g.14060 G>T | p.G245C | Exon 7 | Missense | Nonfunctional | IV | Expectant management | 24 | 9.8 |
6 | 59 | g.14061 G>T | p.G245V | Exon 7 | Missense | Nonfunctional | IV | Multiagent chemotherapy | 4 | 0.5 |
7 | 65 | g.14111 T>G | NA | Intron 7 | Splice site | Splice | III | Multiagent chemotherapy | 11 | 0.9 |
8 | 78 | g.14486 C>T | p.R273C | Exon 8 | Missense | Nonfunctional | III | Multiagent chemotherapy | 12 | 7.7 |
9 | 53 | g.14487 G>A | p.R273H | Exon 8 | Missense | Nonfunctional | III | Radiotherapy | 25 | 4.4 |
10 | 63 | g.14487 G>A | p.R273H | Exon 8 | Missense | Nonfunctional | II | Multiagent chemotherapy | 16 | 2.3 |
11 | 63 | g.14513 C>T | p.R282W | Exon 8 | Missense | Nonfunctional | IV | Multiagent chemotherapy | 15 | 2.0 |
12 | 75 | g.14517 G>A | p.R283H | Exon 8 | Missense | Functional | IV | Multiagent chemotherapy | 15 | 1.3 |
PFS indicates progression-free survival; OS, overall survival; and NA, not applicable.
Genomic numbers refer to reference sequence U94788.
Predicted amino acid numbers refer to a translation of NM000546.
Predicted structural and functional characteristics of the mutations were obtained from the mutation validation tool of the IARC TP53 Mutation Database.