Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations.
|
8075648 |
1994 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome.
|
17540308 |
2007 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Tumour p53 mutations exhibit promoter selective dominance over wild type p53.
|
11896595 |
2002 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.
|
7783166 |
1995 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Alteration of p53 gene in ovarian carcinoma: clinicopathological correlation and prognostic significance.
|
7981076 |
1994 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
|
9242456 |
1997 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mapping the p53 transcriptome universe using p53 natural polymorphs.
|
24076587 |
2014 |
Li-Fraumeni Syndrome
|
1.000 |
AlteredExpression
|
disease |
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 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Rapid profiling of disease alleles using a tunable reporter of protein misfolding.
|
22923379 |
2012 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations.
|
8023157 |
1994 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Number of rare germline CNVs and TP53 mutation types.
|
23259501 |
2012 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors.
|
7881428 |
1994 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements.
|
11429705 |
2001 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions.
|
10229196 |
1999 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.
|
8118819 |
1994 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
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 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
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 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Identification of a tumor-derived p53 mutant with novel transactivating selectivity.
|
10871862 |
2000 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program.
|
27276934 |
2017 |