Adrenocortical carcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The adrenocortical carcinoma showed positive staining for both p53 and cyclin D1 and a high Ki-67 index of 60%.
|
28095038 |
2017 |
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The low rate of cure of adrenocortical carcinomas (ACC) in children and adults is related to germ line TP53 mutation, late diagnosis, incomplete surgical resection, and lack of an efficient adjunctive therapy.
|
29372993 |
2017 |
Adrenocortical carcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Novel TP53 Mutation Associated with TWIST1 and SIP1 Expression in an Aggressive Adrenocortical Carcinoma.
|
28421464 |
2017 |
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 |
Here, we review ∼15 years of research into an unusual germline TP53 mutation (p.R337H) that began with its detection in children with adrenocortical carcinoma (ACC), a remarkably rare childhood cancer that is associated with poor prognosis.
|
27663983 |
2016 |
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 |
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 |
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 |
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 |
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 |
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 |