Table 2.
Mutational Activity Among Individuals With and Without a Family History Consistent With Li-Fraumeni Syndrome/Li-Fraumeni–Like Syndrome
| Pedigree No. | Allele | Inheritance | Median Activity (according to Kato et al33; %) |
|---|---|---|---|
| Family cancer history present | |||
| 1 | P152L | Maternal | 16.1 |
| 21 | R158H | Maternal | 16.05 |
| 2 | P219S | Maternal | 9.15 |
| 41 | S241Y | Paternal | 0 |
| 45 | R273S | Maternal | 10.3 |
| 6 | T125T (c.375G>A) | Maternal | 0 (predicted) |
| 14 | T125T (c.375G>A) | Unknown* | 0 (predicted) |
| 8 | del exon 10-11 | Maternal | 0 (predicted) |
| 42 | del exon 10-11 | Maternal | 0 (predicted) |
| 87 | N311fs (c.911insA) | Maternal | NA |
| Family cancer history absent | |||
| 7 | F134Y | Paternal | 61.5 |
| 3† | Y163C | De novo | 5.5 |
| 5† | H193P | De novo | 11.8 |
| 44 | C229R | Unknown* | 30 |
| 23 | N235D | Unknown* | 37.6 |
| 4† | C275X | De novo | 0 (predicted) |
| 58† | E285V | De novo | 8.9 |
| 12 | G334R | Maternal | 86.6 |
| 47 | R267Q | Maternal | 21.5 |
Abbreviation: NA, not applicable.
*
Unknown denotes that parental DNA was unavailable and pedigree analysis could not establish an obligate carrier.
†
Patients with de novo germline mutations.