Prevalence of TP53 Germline Variants in Selected Cohorts
| Diagnosis | Cohort | Cases Analyzed | Cases Mutated | Variant Prevalence (%) | Remark | PubMed |
|---|---|---|---|---|---|---|
| Adrenocortical ca. | chidren (<=18 years) with ADC | 6 | 3 | 50.0 | None | 7966399 |
| Adrenocortical ca. | Unselected cases | 53 | 4 | 7.5 | None | 23175693 |
| Adrenocortical ca. | Adult onset | 103 | 4 | 3.9 | None | 22170717 |
| Adrenocortical ca. | Adult cases | 49 | 7 | 14.3 | None | 29070607 |
| Adrenocortical ca. | Chidren <15 years with ADC and without significant family history | 14 | 12 | 86.0 | None | 10486318 |
| Adrenocortical ca. | Chidren (<=20 years) with ADC | 68 | 34 | 50.0 | None | 25584008 |
| Adrenocortical ca. | Pediatric tumors | 3 | 1 | 33.3 | None | 22653678 |
| Adrenocortical ca. | Children cases | 97 | 45 | 46.4 | None | 29070607 |
| Adrenocortical ca. | Pediatric tumors | 70 | 65 | 93.0 | Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) | 21192060 |
| Adrenocortical ca. | Children diagnosed with ACT within 5 years after neonatal screening for TP53 R337H variant | 13 | 11 | 85.0 | Frequency of ACT differed significantly between newborns negative (two of 171,188) and positive (11 of 461) for the R337H mutation | 23733769 |