Study participants | Total | TP53-R337H | TP53- R337H + XAF1- E134* | FDR | P | OR* | CI |
Control (newborn screening) | 147 | 46 | 101 | — | — | — | — |
ACT [total cases (N)] | 102 | 26 | 76 | 0.314 | 0.198 | 1.33 | 0.799 to Inf |
ACT (<5 years) | 77 | 20 | 57 | 0.314 | 0.251 | 1.297 | 0.742 to Inf |
ACT (≥5 years) | 25 | 6 | 19 | 0.351 | 0.316 | 1.439 | 0.586 to Inf |
Sarcomas | 30 | 2 | 28 | 0.03 | 0.003 | 6.329 | 1.756 to Inf |
Breast cancer [total cases (N)] | 57 | 14 | 43 | 0.314 | 0.22 | 1.397 | 0.743 to Inf |
Breast cancer (≤45 years) | 31 | 7 | 24 | 0.314 | 0.23 | 1.558 | 0.680 to Inf |
Breast cancer (>45 years) | 26 | 7 | 19 | 0.423 | 0.423 | 1.235 | 0.524 to Inf |
Other cancers | 10 | 0 | 10 | 0.07 | 0.028 | 9.621 | 1.245 to Inf |
Total | 199† | 42 | 157 | 0.07 | 0.022 | 1.7 | 1.097 to Inf |
Multiple tumors [total cases (N)] | 33 | 3 | 30 | 0.03 | 0.006 | 4.525 | 1.517 to Inf |
*For other cancers, group OR was estimated by adding 0.5 to the contingency table. Other ORs are conditional maximum likelihood estimator.
†Four probands (three ACTs and one CPC) homozygous for both variants were excluded from the analysis so all individuals in the analysis are heterozygous for TP53-R337H.