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. Author manuscript; available in PMC: 2023 Mar 1.
Published in final edited form as: Eur Urol. 2021 Dec 1;81(3):243–250. doi: 10.1016/j.eururo.2021.10.036

Table 3 –

Germline TP53 mutations in prostate cancer (PrCa) cohort compared with the general population

Cohort Total LP/P + VUS/LP ClinVar LP/P
n (%) RR a (95% CI) p value n (%) RR a (95% CI) p value
RL 3329 23 (0.69) 11 (7.1–18) <0.0001 10 (0.30) 11 (5.5–23) <0.0001
AL-1 831 7 (0.84) 14 (6.4–30) <0.0001 5 (0.60) 22 (8.7–57) 0.002
AL-2 2191 6 (0.27) 4.5 (2.0–10) 0.0004 1 (0.05) NA NA
TCGA 499 2 (0.40) 6.6 (1.6–27) 0.009 0 (NA) NA NA
Combined 6850 38 (0.55) 9.1 (6.2–14) <0.0001 16 (0.23) 8.7 (4.8–16) <0.0001

AL = Academic Laboratory; CI = confidence interval; RL = reference laboratory; LP/P = likely pathogenic and pathogenic mutations; RR = relative risk; TCGA = The Cancer Genome Atlas; VUS = variants of uncertain significance.

a

gnomAD v2.1.1 noncancer, 134 187 sample data for TP53 were downloaded and TP53 variants classified as LP/P mutations as per ClinVar or VUS/LP in ClinVar, classified as likely pathogenic in this study. The rate of LP/P and VUS/LP TP53 variants in gnomAD was 0.059%, and the rate of ClinVar LP/P TP53 variants in gnomAD was 0.026%.