Table 1.
Outcome of TP53 and previous mutation screening
| No. of cases |
TP53 mutation
|
Other mutations | ||||
|---|---|---|---|---|---|---|
| Nucleotide | Exon | AA change | Mutation type | |||
| VEO group* | ||||||
| 1 | G13203A | 6 | R175H | Missense | — | |
| 1 | 7568–12905del | 2–4 | — | Large deletion | — | |
| 6 | BRCA1 | |||||
| 3 | BRCA2 | |||||
| 2 | CHEK2 1100delC | |||||
| 39 | None | |||||
| Total | 52 | |||||
| EO-FH group† | ||||||
| 1 | G12299A | 4 | (T125T) | Splice site | — | |
| 1 | 14058delG | 7 | — | Frameshift | — | |
| 1 | T13240G | Intron 5 | — | Splice site | — | |
| 7 | BRCA1 | |||||
| 3 | BRCA2 | |||||
| 1 | ATM 7172 A>G | |||||
| 28 | None | |||||
| Total | 42 | |||||
*
Breast cancer diagnosed before age 30 y (irrespective of family history).
†
Breast cancer diagnosed at age 30 to 39 y, with two or more first- or second-degree relatives affected with breast and/or ovarian cancer (a strong family history).