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 HPO

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

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 GeneticVariation UNIPROT

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

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

2013

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

2015

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE TP53 germline mutations in adult patients with adrenocortical carcinoma. 22170717

2012

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE A Novel TP53 Mutation Associated with TWIST1 and SIP1 Expression in an Aggressive Adrenocortical Carcinoma. 28421464

2018

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

1999

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE All families with a p53 mutation had at least one family member with a sarcoma, breast, brain, or adrenocortical carcinoma (ACC). 19204208

2009

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE Allelic losses at the p53 and RB loci were detected in all tumor samples, suggesting that the p53 and RB genes are involved in the tumorigenesis of adrenocortical carcinoma. 8640732

1996

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE Although codon 273 is a known hotspot region for p53 mutation, the patient's mutation, R273H, has not been associated with development of adrenal cortical carcinoma. 16096528

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 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

2013

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE Detection of novel germ-line p53 mutations in diverse-cancer-prone families identified by selecting patients with childhood adrenocortical carcinoma. 1569604

1992

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation CLINVAR Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. 26822237

2016

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 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 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 LHGDN Germline p53 mutation is associated with adrenocortical carcinoma and subsequent osteosarcoma 18989156

2008

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 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 High frequency of germline p53 mutations in childhood adrenocortical cancer. 7966399

1994

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma. 18762572

2008