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 |
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 |
Our results suggest that the TP53 codon 72 polymorphism could be associated with susceptibility for adrenocortical cancer in the examined Polish patients.
|
16786124 |
2006 |
Adrenocortical carcinoma
|
0.800 |
Biomarker
|
disease |
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 |
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 |
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 |
LHGDN |
Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma.
|
18989156 |
2008 |
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma.
|
18989156 |
2008 |
Adrenocortical carcinoma
|
0.800 |
SusceptibilityMutation
|
disease |
ORPHANET |
Molecular markers and the pathogenesis of adrenocortical cancer.
|
18515740 |
2008 |
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma.
|
18762572 |
2008 |
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
More rarely, it occurs in the Li-Fraumeni syndrome, caused by a p53 germline mutation, in which markedly early-onset BC is found in association with brain tumors, sarcomas, leukemia, lymphoma, malignant melanoma, and adrenal cortical carcinoma.
|
18086272 |
2008 |
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
All families with a p53 mutation had at least one family member with a sarcoma, breast, brain, or adrenocortical carcinoma (ACC).
|
19204208 |
2009 |
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 |
Virilizing adrenocortical carcinoma in a child with Turner syndrome and somatic TP53 gene mutation.
|
19701813 |
2010 |
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical impact of TP53 alterations in adrenocortical carcinomas.
|
22203015 |
2012 |
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 |
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 |
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 |
Adrenocortical carcinoma (ACC) is a very rare paediatric cancer, and up to 80% of affected children are found to carry germline TP53 mutations.
|
22233476 |
2012 |
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 |
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 |
Biomarker
|
disease |
CTD_human |
Mutational analyses of epidermal growth factor receptor and downstream pathways in adrenocortical carcinoma.
|
23585556 |
2013 |
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma.
|
23175693 |
2013 |
Adrenocortical carcinoma
|
0.800 |
Biomarker
|
disease |
CTD_human |
Integrated genomic characterization of adrenocortical carcinoma.
|
24747642 |
2014 |
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Less common genotype variants of TP53 polymorphisms are associated with poor outcome in adult patients with adrenocortical carcinoma.
|
24566897 |
2014 |