×
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
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
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
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
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
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome.
20693561
2011
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
In order to determine the frequency and distribution of germ-line p53 mutations in LFS , we sequenced the 10 coding exons of the p53 gene in lymphocytes and fibroblast cell lines derived from 15 families with the syndrome.
7887414
1995
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
CLINVAR
Gain-of-function mutations of the p53 gene induce lymphohematopoietic metastatic potential and tissue invasiveness.
8080050
1994
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation.
8134126
1994
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
These findings identify an important subgroup of young patients with cancer who carry germline mutations in the p53 tumor-suppressor gene but whose family histories are not indicative of the Li-Fraumeni syndrome .
1565144
1992
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
GeneticVariation
CLINVAR
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
29752822
2019
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
1.000
CausalMutation
CLINVAR
DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations.
25945745
2015