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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Clinical impact of TP53 alterations in adrenocortical carcinomas.
|
22203015 |
2012 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
A Novel TP53 Mutation Associated with TWIST1 and SIP1 Expression in an Aggressive Adrenocortical Carcinoma.
|
28421464 |
2017 |
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 |
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 |
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 |