Family history of patients with putative TP53 origin mutations*
| Kindred | Proband cancer† (age of onset) | Criteria met | Family history | Mutation type | |||||
| Relative(s) | Cancer† (age of onset) | Mutation | Amino acid | Consequence | Conservation‡ | Truncating? | |||
| 78 | 3 LFS core cancers (20s, 20s, 20s) | Chompret | 2° ancestor | Non-LFS core (70s) | 13419 A>C | Tyr220Ser | Missense | P3 | No |
| 288 | LFS core cancer (<5) | Chompret | None | None | 14070 G>A | Arg248Gln | Missense | P4 | No |
| 358 | LFS core cancer (20s) | Chompret | 1° descendant | LFS core (<10) | IVS 8-1 G>T | – | Splice | N/A | Yes |
| 362 | LFS core cancer (teen) | no clinical criteria | 3° ancestor | LFS core (50s) | 14070 G>A | Arg248Gln | Missense | P4 | No |
| 368 | 2 LFS core cancers (<5, teen) | Chompret | 3° ancestor, 3° ancestor | LFS core (40s), Non-LFS core (40s) | 12138 ins C | Pro72ter | Nonsense | N/A | Yes |
| 370 | LFS core cancer (<5) | Chompret | None | None | 14494 del8ins5§ | Cys275ter | Nonsense§ | N/A | Yes |
| 381 | Non-LFS core cancer (teen), 2 LFS core cancers (20s, 20s) | Chompret | None | None | 14486 C>T | Arg273Cys | Missense | P4 | No |
| 410 | 2 LFS core cancers (<14, <14) | Chompret | None | None | 17602 C>T | Arg342ter | Nonsense | N/A | Yes |
| 442 | 2 LFS core cancers (<5, <5) | Chompret | None | None | 14049 C>T | Ser241Phe | Missense | P4 | No |
| 527 | 2 LFS core cancers (20s, 30s), 4 non-LFS core cancers (50s, 50s, 50s, 50s) | Chompret | 2° descendant, 2° descendant | LFS core (<1), LFS core (unknown age) | 13071 A>T | Asn131Ile | Missense | P2 | No |
LFS, Li–Fraumeni syndrome.
*One or both parents were unavailable for testing, but did not have cancer; these putative origins are unconfirmed.
†LFS core cancers include cancers of the breast and brain, adrenocortical carcinoma, and sarcoma. The core cancers account for >77% of LFS proband associated cancers12
‡See table 1.
§Deletion of TGCCTGTC/insertion of AGGTG, resulting in an in-frame deletion of 3 nucleotides and the creation of a stop codon at position 275.