LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors.
|
12885464 |
2003 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families.
|
10922393 |
2000 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.
|
20128691 |
2010 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning.
|
9667734 |
1998 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.
|
11370630 |
2001 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.
|
24122735 |
2013 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.
|
18511570 |
2008 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.
|
26786923 |
2016 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.
|
1565143 |
1992 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.
|
16401470 |
2006 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Screening for germ line TP53 mutations in breast cancer patients.
|
1591732 |
1992 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Simple identification of dominant p53 mutants by a yeast functional assay.
|
9364015 |
1997 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.
|
16551709 |
2006 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
|
16494995 |
2007 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.
|
15951970 |
2005 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
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
|
|
0.700 |
CausalMutation
|
CLINVAR |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
|
17606709 |
2007 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis.
|
23538418 |
2013 |