Table 1 Tumor distribution in probands harboring R337H-only and extended haplotype.

Study participantsTotalTP53-R337HTP53-
R337H + XAF1-
E134*
FDRPOR*CI
Control (newborn
screening)
14746101
ACT [total cases (N)]10226760.3140.1981.330.799 to Inf
ACT (<5 years)7720570.3140.2511.2970.742 to Inf
ACT (≥5 years)256190.3510.3161.4390.586 to Inf
Sarcomas302280.030.0036.3291.756 to Inf
Breast cancer [total
cases (N)]
5714430.3140.221.3970.743 to Inf
Breast cancer (≤45
years)
317240.3140.231.5580.680 to Inf
Breast cancer (>45
years)
267190.4230.4231.2350.524 to Inf
Other cancers100100.070.0289.6211.245 to Inf
Total199421570.070.0221.71.097 to Inf
Multiple tumors
[total cases (N)]
333300.030.0064.5251.517 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.