Table 1. Clinical and TP53 mutation data of the 14 Korean patients with Li-Fraumeni syndrome.
| Patient | Age* | Sex | Tumor type (age at diagnosis)† | Criteria | Exon | Domain | Group** | NT alteration | Mutation type | AA alteration | HGMD | References |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 7 | F | Br (7), Breast (23), Der (35), Leu (35)‡ | Chompret | 5 | DNA binding | L2 | c.524G > A | missense | p.Arg175His | CM951224 | This study |
| 2 | NA | F | Os (NA) | NA | 5 | DNA binding | L2 | c.524G > A | missense | p.Arg175His | CM951224 | This study |
| 3 | NA | F | Os (NA), Leu‡,§ | NA | 8 | DNA binding | S2-S2-H2 motif | c.818G > A | missense | p.Arg273His | CM920677 | This study |
| 4 | 45 | F | Thy (45)∥, Lm (47) | NA | 3 | Transactivation | NA | c.91G > A | missense | p.Val31Ile | CM074603 | This study |
| 5 | NA | F | Leu (NA), Breast (NA), Thy (NA) | Chompret | 8 | DNA biding | S2-S2-H2 motif | c.817C > T | missense | p.Arg273Cys | CM951233 | This study |
| 6 | 1 | F | ACC (1), Os, (4), Br (4), Leu (10)‡ | Chompret | 4 | NA | NA | c.293delC | frameshift | p.Pro98Leufs*25 | novel | This study |
| 7 | 28 | F | Breast (28,38)¶, Nf (33), Nasal cavity (38), Lung (43) | Chompret | 3 | Transactivation | NA | c.78delT | frameshift | p.Pro27Leufs*17 | novel | This study |
| 8 | 26 | M | St (26), Br (26) | LFL | 3 | Transactivation | NA | c.91G > A | missense | p.Val31Ile | CM074603 | This study |
| 9 | 25 | F | Breast (25), Lm (25) | LFL | 7 | DNA binding | L3 | c.742C > T | missense | p.Arg248Trp | CM900211 | [11] |
| 10 | 38 | M | St (38) | LFS | 8 | DNA binding | NA | c.859G > T | nonsense | p.Glu287* | CM044948 | [12] |
| 11 | 24 | F | Breast (25), Br (25) | LFL | 5 | DNA binding | L2 | c.524G > A | missense | p.Arg175His | CM951224 | [13] |
| 12 | 2 | M | Rhabdomyosarcoma (2), Br (4) | LFS | 8 | DNA binding | S2-S2-H2 motif | c.818G > A | missense | p.Arg273His | CM920677 | [14] |
| 13 | 47 | F | Breast (47) | LFL | 6 | DNA binding | L2 | c.566C > T | missense | p.Ala189Val | CM031755 | [15] |
| 14 | 17 | F | Os (17), Lung (17) | LFL | 8 | DNA binding | S2-S2-H2 motif | c.818G > A | missense | p.Arg273His | CM920677 | [16] |
The reference sequence of TP53 was NM_000546.4. Recurrent mutations are in bold. All mutations were heterozygous.
*Age at first tumor diagnosis; †In the order of tumor diagnosis; ‡Therapy-related myeloid neoplasm; §positive for chromosomal breakage test; ∥BRAF V600E mutation positive case; ¶BRCA 1 and BRCA 2 mutation negative and positive for hormone receptors (estrogen and progesterone) and ERBB2 (formerly HER2/neu); **Based on structural data from [8,17].
Abbreviations: NT, nucleotide; AA, Amino acid; LFS, Li-Fraumeni syndrome; LFL, Li-Fraumeni syndrome like; NA, not applicable, Br; brain; Der, dermatofibrosarcoma; Leu, leukemia; Os, Osteosarcoma; Thy, thyroid carcinoma; Lm, leiomyoma; ACC, adrenocortical carcinoma; Nf, neurofibroma; St, stomach; HGMD, Human Genome Mutation Database.