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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Alteration of p53 gene in ovarian carcinoma: clinicopathological correlation and prognostic significance.
|
7981076 |
1994 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mapping the p53 transcriptome universe using p53 natural polymorphs.
|
24076587 |
2014 |
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Identification of a tumor-derived p53 mutant with novel transactivating selectivity.
|
10871862 |
2000 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Gain-of-function mutations of the p53 gene induce lymphohematopoietic metastatic potential and tissue invasiveness.
|
8080050 |
1994 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
|
29752822 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results suggest germline p53 mutations to possibly be responsible for a subset of young adult patient with multiple malignant tumors, even those not meeting the clinical criteria for LFS or LFL.
|
19405127 |
2009 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.
|
20522432 |
2010 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
p53 requires an intact C-terminal domain for DNA binding and transactivation.
|
22178617 |
2012 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of transcriptional activity of p53 in individual living mammalian cells.
|
19454241 |
2009 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome.
|
9764816 |
1998 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.
|
10486318 |
1999 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that PTEN may be altered in some TP53-wild-type LFS families.
|
11120338 |
2000 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
|
12826609 |
2003 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The anti-leukemic activity of sodium dichloroacetate in p53mutatednull cells is mediated by a p53-independent ILF3p21 pathway.
|
25544776 |
2015 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years.
|
21484931 |
2011 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in PTEN and p53 tumor suppressor cause Cowden syndrome and Li-Fraumeni syndrome, respectively.
|
24718924 |
2014 |