Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 Biomarker GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation UNIPROT

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 SusceptibilityMutation ORPHANET Molecular markers and the pathogenesis of adrenocortical cancer. 18515740

2008

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 Biomarker HPO

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 Biomarker LHGDN Children in southern Brazil that exhibit an elevated incidence of adrenocortical carcinoma (ACC) harbor an Arg 337 to His mutation within the tetramerization domain of p53 (p53-R337H; 35 of 36 patients). 11753428

2002

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation LHGDN 40 children with ACT carried the TP53 R337H mutation; the remaining child with ACT was not tested. 16033918

2006

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation LHGDN Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma. 18989156

2008

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 CausalMutation CGI

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 Biomarker CTD_human Integrated genomic characterization of adrenocortical carcinoma. 24747642

2014

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 Biomarker CTD_human A patient with adrenocortical carcinoma: characterization of its biological activity and drug resistance profile. 9815696

1997

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 Biomarker CTD_human Mutational analyses of epidermal growth factor receptor and downstream pathways in adrenocortical carcinoma. 23585556

2013

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE Germline mutations of the p53 coding region are present in approximately 50-70% of patients with Li-Fraumeni Syndrome (LFS), a rare hereditary disorder of familial and intraindividual clustering of different malignancies such as sarcoma (index tumor), breast cancer, brain tumors, leukemias, and adrenocortical carcinomas, the latter usually in young children. 12200603

2002

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE Clinical impact of TP53 alterations in adrenocortical carcinomas. 22203015

2012

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 Biomarker BEFREE However, loss of heterozygosity at chromosomal locus 17p has been consistently observed in adrenocortical cancer. p53 is a recessive tumor suppressor gene located on chromosome 17p. 8126158

1994

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation 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

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE 40 children with ACT carried the TP53 R337H mutation; the remaining child with ACT was not tested. 16033918

2006

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE Recently, a characteristic TP53 mutation at codon 337 (R337H) has been identified in the germline of children with adrenocortical carcinoma in Southern Brazil. 15878142

2005

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. 11481490

2001

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE These data suggest that mutational inactivation of the p53 gene occurs in a minority (20%) of sporadic adrenocortical carcinomas and that these mutations constitute a late event in the multi-step process of malignant transformation. 8509216

1993

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation 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

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation 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

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE Germline p53 mutations carry an increased risk of development of breast cancer, soft tissue and osteosarcomas, brain tumors, leukemia and adrenocortical carcinomas. 9825943

1998

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE Germline mutations in p53 were a feature of families which included children with rhabdomyosarcoma and/or adrenal cortical carcinoma. 8118819

1994

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE The tetramerization domain for wild-type p53 (p53tet-wt) and a p53 mutant, R337H (p53tet-R337H), associated with adrenocortical carcinoma (ACC) in children, can be converted from the soluble native state to amyloid-like fibrils under certain conditions. 12634062

2003