Table 1.
Summary of TP53 follow‐up testing and interpretation
| Follow‐up test result interpretation | |||||
|---|---|---|---|---|---|
| Follow‐up testing performed | Confirmed germline | Likely germline | Somatic | Inconclusive/uninformative* | Total |
| Family testing only | 15 (28.8%) | 13 (25.0%) | 0 | 24 (46.2%) | 52 |
| Fibroblast testing only | 0 | 14 (56.0%) | 9 (36.0%) | 2 (8.0%) | 25 |
| Family and fibroblast testing | 4 (19.0%) | 10 (47.6%) | 6 (28.6%) | 1 (4.8%) | 21 |
| Total | 19 (19.4%) | 37 (37.8%) | 15 (15.3%) | 27 (27.6%) | 98 |
*
Fibroblast testing results were inconclusive when initial testing showed an allele frequency consistent with a germline variant, but the ratio of wild‐type to PV allele in the fibroblast sample was significantly skewed from the expected 50:50 ratio. Family member testing was considered uninformative when the TP53 PV was not detected in the tested family member.