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 |
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 |
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 |
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 |
Biomarker
|
disease |
CTD_human |
Integrated genomic characterization of adrenocortical carcinoma.
|
24747642 |
2014 |
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 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
Adrenocortical carcinoma
|
0.800 |
Biomarker
|
disease |
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 |
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 |