TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE 40 children with ACT carried the TP53 R337H mutation; the remaining child with ACT was not tested. 16033918 2006
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease LHGDN 40 children with ACT carried the TP53 R337H mutation; the remaining child with ACT was not tested. 16033918 2006
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE Our results suggest that the TP53 codon 72 polymorphism could be associated with susceptibility for adrenocortical cancer in the examined Polish patients. 16786124 2006
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 Biomarker disease BEFREE The finding that only a minority of adrenocortical tumors with 17p13 LOH had either a VNTR1 LOH or a TP53 mutation indicates that TP53 might not be the only or major tumor suppressor gene at 17p13 involved in adrenocortical cancer progression. 17289876 2007
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE Germline TP53 mutations predispose to a rare familial cancer syndrome, the Li-Fraumeni Syndrome (LFS), characterized by the early onset of multiple cancers including childhood adrenocortical carcinomas, sarcomas and brain tumors, and breast and colon cancer in young adults. 18248785 2008
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 Biomarker disease BEFREE We found a statistically significant correlation between the expression of p53, p21, Ki67 and the differential diagnosis of adrenal cortical adenoma and adrenocortical carcinoma (for proteins: p53 p=0.010, for p21 p=0.010, for Ki67 p<0.001). 18393131 2008
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease LHGDN Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma. 18989156 2008
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma. 18989156 2008
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 SusceptibilityMutation disease ORPHANET Molecular markers and the pathogenesis of adrenocortical cancer. 18515740 2008
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma. 18762572 2008
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE More rarely, it occurs in the Li-Fraumeni syndrome, caused by a p53 germline mutation, in which markedly early-onset BC is found in association with brain tumors, sarcomas, leukemia, lymphoma, malignant melanoma, and adrenal cortical carcinoma. 18086272 2008
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE All families with a p53 mutation had at least one family member with a sarcoma, breast, brain, or adrenocortical carcinoma (ACC). 19204208 2009
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE The authors here present a family with pR337P mutation in TP53 gene who had a child with acute lymphoblastic leukemia (ALL) and associated adrenocortical carcinoma as a case 1 and his cousin with brain tumor as a case 2. 20426520 2010
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE Virilizing adrenocortical carcinoma in a child with Turner syndrome and somatic TP53 gene mutation. 19701813 2010
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE Clinical impact of TP53 alterations in adrenocortical carcinomas. 22203015 2012
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE According to the Chompret criteria for LFS, any patient with adrenocortical cancer (ACC), irrespective of age and family history, is at high risk for a TP53 germline mutation. 22170717 2012
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE Clinically relevant TP53 germline mutations were identified in three of the four patients (75%) with a family history of at least two LFS-linked cancers (breast, bone or soft tissue sarcoma, brain tumors or adrenocortical cancer); 1 of the 17 patients (6%) with a family history of breast cancer only, and 1 of the 62 patients (< 2%) with no family history of breast or LFS-linked cancers. 22507745 2012
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE Adrenocortical carcinoma (ACC) is recognized to be a component tumor of the Li Fraumeni Syndrome (LFS), a familial cancer predisposition resulting from germline mutations in the p53 tumor-suppressor. p53 activity is tightly regulated by multiple post-translational mechanisms, disruption of which may lead to tumorigenesis. 21930187 2012
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE Adrenocortical carcinoma (ACC) is a very rare paediatric cancer, and up to 80% of affected children are found to carry germline TP53 mutations. 22233476 2012
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE Adrenocortical carcinomas (ACCs) are among the most common childhood cancers occurring in infants affected with the Li-Fraumeni and Li- Fraumeni-like (LFS/LFL) syndromes, which are caused by dominant germline mutations in the TP53 gene. 23570263 2013
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 Biomarker disease CTD_human Mutational analyses of epidermal growth factor receptor and downstream pathways in adrenocortical carcinoma. 23585556 2013
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. 23175693 2013
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 Biomarker disease CTD_human Integrated genomic characterization of adrenocortical carcinoma. 24747642 2014
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE Less common genotype variants of TP53 polymorphisms are associated with poor outcome in adult patients with adrenocortical carcinoma. 24566897 2014