|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Adrenocortical carcinoma
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
|
Adrenocortical carcinoma
|
0.800 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Detection of novel germ-line p53 mutations in diverse-cancer-prone families identified by selecting patients with childhood adrenocortical carcinoma.
|
1569604 |
1992 |
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Adrenocortical carcinoma
|
0.800 |
Biomarker
|
disease |
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 |
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in p53 were a feature of families which included children with rhabdomyosarcoma and/or adrenal cortical carcinoma.
|
8118819 |
1994 |
|
Adrenocortical carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
It may be reasonable for children with adrenocortical carcinoma to be candidates for germline TP53 analysis.
|
7966399 |
1994 |
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Adrenocortical carcinoma
|
0.800 |
Biomarker
|
disease |
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 |
|
Adrenocortical carcinoma
|
0.800 |
Biomarker
|
disease |
CTD_human |
A patient with adrenocortical carcinoma: characterization of its biological activity and drug resistance profile.
|
9815696 |
1997 |
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
There were marked organ-specific differences in the mean age at which carriers of p53 germline mutations present with neoplastic disease: 5 years for adrenocortical carcinomas, 16 years for sarcomas, 25 years for brain tumors, 37 years for breast cancer, and almost 50 years for lung cancer.
|
9006316 |
1997 |
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.
|
9598730 |
1998 |
|
Adrenocortical carcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
One adrenocortical carcinoma tissue showed very high p53 protein content (3000 pg/mg cytosolic protein).
|
9972675 |
1998 |
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma.
|
11481490 |
2001 |
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TP53 gene are frequent in adrenocortical carcinomas and might be used as a marker of malignancy.
|
11454518 |
2001 |
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Adrenocortical carcinoma
|
0.800 |
Biomarker
|
disease |
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 |
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation.
|
15390294 |
2004 |
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Adrenocortical carcinoma
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
To investigate the role of coding region mutation and promoter hypermethylation of TP53 in adrenocortical cancer formation.
|
15922892 |
2005 |
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The genetic predisposition to adrenocortical cancer in children has been well established in the Li-Fraumeni and Beckewith-Wiedeman syndromes due to germline p53 mutation located at 17p13 and dysregulation of the imprinted IGF-2 locus at 11p15, respectively.
|
16001332 |
2005 |
|
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
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 |