|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
BEFREE |
We identified a missense germline mutation (Gly245Ser) in one of the mutation hot spots of the TP53 gene in two affected members of a Li-Fraumeni syndrome family.
|
12885464 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.
|
24122735 |
2013 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.
|
7783166 |
1995 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.
|
1565143 |
1992 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
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
|
|
0.810 |
CausalMutation
|
CLINVAR |
Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib.
|
24835218 |
2014 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mutant p53 proteins bind DNA in a DNA structure-selective mode.
|
15722483 |
2005 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Incidence of germ-line p53 mutations in patients with gliomas.
|
8550239 |
1995 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Li-Fraumeni syndrome--a molecular and clinical review.
|
9218725 |
1997 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.
|
17311302 |
2007 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
We identified a missense germline mutation (Gly245Ser) in one of the mutation hot spots of the TP53 gene in two affected members of a Li-Fraumeni syndrome family.
|
12885464 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.
|
24122735 |
2013 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
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
|
|
0.810 |
CausalMutation
|
CLINVAR |
p53 gene mutations in pediatric brain tumors.
|
7565304 |
1995 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Screening for germ line TP53 mutations in breast cancer patients.
|
1591732 |
1992 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
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
|
|
0.810 |
CausalMutation
|
CLINVAR |
Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.
|
12917626 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis.
|
23538418 |
2013 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
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
|
|
0.810 |
CausalMutation
|
CLINVAR |
Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.
|
16401470 |
2006 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Establishment and characterization of the first pediatric adrenocortical carcinoma xenograft model identifies topotecan as a potential chemotherapeutic agent.
|
23406775 |
2013 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
|
9242456 |
1997 |