|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors.
|
31728854 |
2020 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
We investigated tumor profile data and outcomes of individuals and their close relatives with the TP53 p.R337H germline mutation.
|
30974190 |
2019 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Adrenocortical tumors associated with the TP53 p.R337H germline mutation can be identified during child-care consultations.
|
28864397 |
2018 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Contribution of the TP53 R337H mutation to the cancer burden in southern Brazil: Insights from the study of 55 families of children with adrenocortical tumors.
|
28387921 |
2017 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our data indicate that in addition to adrenocortical tumors, choroid plexus carcinoma, breast cancer and osteosarcoma, genetic counseling and clinical surveillance should consider neuroblastoma as a potential neoplasia affecting p.R337H carriers.
|
26452166 |
2015 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
The tumor suppressor gene TP53 is the most frequently mutated gene in human cancer, and the germline TP53 R337H mutation is the most common mutation reported to date.
|
25736369 |
2015 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Given this potential association and the high frequency of the TP53 p.R337H in southern and southeastern Brazil, the aim of this study was to assess whether p.R337H occurs among women diagnosed with such rare tumors in this region.
|
23794094 |
2013 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors.
|
23733769 |
2013 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
DNA from intra-surgical specimens revealed a TP53 mutation at codon 337 (p.R337H) in samples with neoplastic cells (dysplasia, tumor and metastasis) but not in non-transformed cells (incomplete intestinal metaplasia and non-involved celiac lymph node).
|
22004116 |
2011 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
In addition, this patient harbors the germline p.R337H p53 mutation and loss of heterozygosity (LOH) was detected in the tumors.
|
21468523 |
2011 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
High frequency of loss of heterozygosity at 11p15 and IGF2 overexpression are not related to clinical outcome in childhood adrenocortical tumors positive for the R337H TP53 mutation.
|
18786438 |
2008 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
These results show that the TP53 R337H germline mutation predisposes to a larger spectrum of tumours, similar to the one reported for other TP53 mutations.
|
16494995 |
2007 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Deletion mapping of chromosome 17 in benign and malignant adrenocortical tumors associated with the Arg337His mutation of the p53 tumor suppressor protein.
|
15741269 |
2005 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
The R337H p53 mutation was inherited from one of the parents of the patients, and there was no association between the presence of this mutation and tumor malignancy in children.
|
15952083 |
2005 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
An identical haplotype for p53 locus was also identified in 95% of the apparently unrelated Brazilian patients with adrenocortical tumors carrying the R337H mutation.
|
15761534 |
2004 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, the germ line Arg337His mutation of p53 protein is present at a high frequency (77.7%) in children with benign or malignant sporadic adrenocortical tumors, but it is not restricted to the pediatric group, since 13.5% of adults with adrenocortical tumors also had this mutation.
|
11600572 |
2001 |