View Data: TP53 Germline Variants Prevalence in Selected Cohorts
| Diagnosis | Cohort | Cases_Analyzed | Cases_mutated | Mutation_prevalence | Remark | PubMed | G_Ref_Year | G_Prevalence_ID | |
|---|---|---|---|---|---|---|---|---|---|
Diagnosis | Cohort | Cases_Analyzed | Cases_mutated | Mutation_prevalence | Remark | PubMed | G_Ref_Year | G_Prevalence_ID | |
|---|---|---|---|---|---|---|---|---|---|
| Adrenocortical ca. | chidren (<=18 years) with ADC | 6.0 | 3.0 | 50.0 | 7966399 | 1994 | 73 | ||
| Adrenocortical ca. | Chidren <15 years with ADC and without significant family history | 14.0 | 12.0 | 86.0 | 10486318 | 1999 | 74 | ||
| Adrenocortical ca. | Pediatric tumors | 70.0 | 65.0 | 93.0 | Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) | 21192060 | 2011 | 36 | |
| Adrenocortical ca. | Adult onset | 103.0 | 4.0 | 3.9 | 22170717 | 2012 | 45 | ||
| Adrenocortical ca. | Pediatric tumors | 3.0 | 1.0 | 33.3 | 22653678 | 2012 | 20 | ||
| Adrenocortical ca. | Unselected cases | 53.0 | 4.0 | 7.5 | 23175693 | 2013 | 39 | ||
| Adrenocortical ca. | Children diagnosed with ACT within 5 years after neonatal screening for TP53 R337H variant | 13.0 | 11.0 | 85.0 | Frequency of ACT differed significantly between newborns negative (two of 171,188) and positive (11 of 461) for the R337H mutation | 23733769 | 2013 | 57 | |
| Adrenocortical ca. | Chidren (<=20 years) with ADC | 68.0 | 34.0 | 50.0 | 25584008 | 2015 | 72 | ||
| Adrenocortical ca. | Adult cases | 49.0 | 7.0 | 14.3 | 29070607 | 2017 | 129 | ||
| Adrenocortical ca. | Children cases | 97.0 | 45.0 | 46.4 | 29070607 | 2017 | 128 |