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 |
GeneticVariation
|
disease |
BEFREE |
Clinical impact of TP53 alterations in adrenocortical carcinomas.
|
22203015 |
2012 |
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
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 |
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
LHGDN |
40 children with ACT carried the TP53 R337H mutation; the remaining child with ACT was not tested.
|
16033918 |
2006 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
LHGDN |
Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma.
|
18989156 |
2008 |
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 |
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 |
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 |