×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
BEFREE
No constitutional p53 mutations were detected in any of these patients, implying that outside the clinical spectrum of LFS , constitutional p53 mutations are rare in patients with lymphomas.
10539880
1999
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
Biomarker
MGD
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
BEFREE
This is, to our knowledge, the largest single report of diagnostic testing for germline p53 mutations, yielding practical mutation prevalence tables and suggesting clinical utility of classic LFS and Chompret criteria for identifying a subset of cancer-prone families with p53 germline mutations, with important implications for diagnosis and management.
19204208
2009
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
CLINVAR
Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations.
8075648
1994
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
CLINVAR
EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome.
17540308
2007
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
BEFREE
Five immortal cell lines derived from a Li-Fraumeni syndrome patient (MDAH 087) with a germline mutant p53 allele were characterized with respect to telomere length and genomic instability.
12771041
2003
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
Tumour p53 mutations exhibit promoter selective dominance over wild type p53.
11896595
2002
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.
7783166
1995
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
CLINVAR
Alteration of p53 gene in ovarian carcinoma: clinicopathological correlation and prognostic significance.
7981076
1994
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
9242456
1997
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
CLINVAR
Mapping the p53 transcriptome universe using p53 natural polymorphs.
24076587
2014
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
AlteredExpression
BEFREE
To test our hypothesis that changes in gene expression beyond p53 per se are contributing to the development of tumors, we compared gene expression in non-cancerous skin fibroblasts of LFS -affected (p53 heterozygous) vs. non-affected (p53 wild-type homozygous) family members.
23114650
2013
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
Rapid profiling of disease alleles using a tunable reporter of protein misfolding.
22923379
2012
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
BEFREE
In contrast to the accepted concept that p53 homozygous mutant mice do not accumulate mutant p53 in normal cells, our study on a mutant p53 mouse model of Li-Fraumeni syndrome harbouring the hot-spot p53R172H mutation described an elevated level of mutant p53 in non-cancerous mouse tissues.
27869164
2017
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations.
8023157
1994
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
Number of rare germline CNVs and TP53 mutation types.
23259501
2012
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
CLINVAR
A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors.
7881428
1994
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
CLINVAR
p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements.
11429705
2001
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions.
10229196
1999
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
BEFREE
A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family.
7936651
1994
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.
8118819
1994
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
Quantitative analysis of residual folding and DNA binding in mutant p53 core domain: definition of mutant states for rescue in cancer therapy.
10713666
2000
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
A Japanese patient with Li-Fraumeni syndrome who had nine primary malignancies associated with a germline mutation of the p53 tumor-suppressor gene.
18307025
2008
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
CLINVAR
Identification of a tumor-derived p53 mutant with novel transactivating selectivity.
10871862
2000
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program.
27276934
2017