Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome.
|
20693561 |
2011 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation.
|
8134126 |
1994 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Most of the genes listed are responsible for various well-defined cancer syndromes, such as CDKN2A (familial atypical mole-multiple melanoma, FAMMM), the mismatch repair genes (Lynch Syndrome), TP53 (Li-Fraumeni syndrome), APC (familial adenomatous polyposis), and BRCA2 (breast-ovarian familial cancer), where PC is part of the cancer spectrum of the disease.
|
19150414 |
2009 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations.
|
25945745 |
2015 |
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
It is believed that the loss of p53 wild type function contributes to immortalization of these LFS fibroblasts, but it is not clear if this is sufficient.
|
9715272 |
1998 |
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 |
CausalMutation
|
disease |
CLINVAR |
We report a patient with composite neuroblastoma (NB), adrenocortical tumor (ACT), and Li-Fraumeni syndrome (LFS) with germline TP53 R248W mutation.
|
17427234 |
2008 |
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 |
Biomarker
|
disease |
BEFREE |
A significant prevalence of homozygous MDM2 SNP309 G in the LFS Suggestive group (p < 0.0005) confirms its contribute to cancer susceptibility, also highlighted in LFS TP53 positive families.
|
26956143 |
2016 |
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 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
p53 mutations isolated in yeast based on loss of transcription factor activity: similarities and differences from p53 mutations detected in human tumors.
|
9572492 |
1998 |
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation
|
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 |
BEFREE |
Germline p53 mutations are frequently observed in the normal DNA of cancer-prone patients with Li-Fraumeni syndrome (LFS).
|
8649766 |
1996 |