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 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

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

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

2012

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE We previously reported mutations in the "hot spots" between exons 5-8 of the p53 gene in adrenocortical carcinomas but not in adenomas. 8855814

1996

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation. 15390294

2004

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE Mutations in the TP53 gene are frequent in adrenocortical carcinomas and might be used as a marker of malignancy. 11454518

2001

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

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 PosttranslationalModification BEFREE To investigate the role of coding region mutation and promoter hypermethylation of TP53 in adrenocortical cancer formation. 15922892

2005

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation BEFREE Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation. 9598730

1998

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 Biomarker BEFREE The adrenocortical carcinoma showed positive staining for both p53 and cyclin D1 and a high Ki-67 index of 60%. 28095038

2017

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 AlteredExpression BEFREE One adrenocortical carcinoma tissue showed very high p53 protein content (3000 pg/mg cytosolic protein). 9972675

1998

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

2013