Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.
|
25584008 |
2015 |
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis.
|
23538418 |
2013 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.
|
21601526 |
2011 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome.
|
21305319 |
2011 |
Li-Fraumeni Syndrome
|
|
0.800 |
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
|
|
0.800 |
CausalMutation
|
CLINVAR |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
|
17606709 |
2007 |
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
|
17392385 |
2007 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin.
|
15381368 |
2004 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
|
9242456 |
1997 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.
|
7887414 |
1995 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree.
|
1359493 |
1992 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.
|
1565143 |
1992 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
The p53 tumour suppressor gene.
|
2046748 |
1991 |
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
Neoplasms
|
|
0.770 |
GeneticVariation
|
BEFREE |
Intriguingly, Cer-RUB nanomicelle treatments restored p53-dependent tumor suppression and sensitivity to cisplatin in OVCAR-3 ovarian cancer cells and xenograft tumors carrying p53 R248Q mutation.
|
31645443 |
2020 |
Neoplasms
|
|
0.770 |
GeneticVariation
|
BEFREE |
We show that the most common mutp53 allele R248Q (p53<sup>Q</sup>) exerts gain of function (GOF) and creates tumor dependence in mouse CRC models. mutp53 protein binds Stat3 and enhances activating Stat3 phosphorylation by displacing the phosphatase SHP2.
|
30107178 |
2018 |
Neoplasms
|
|
0.770 |
GeneticVariation
|
BEFREE |
TP53 mutation analysis revealed an R248L mutation in both epithelial and mesenchymal components of 1 tumor.No TP53 rearrangements were identified.
|
25704628 |
2015 |
Neoplasms
|
|
0.770 |
GeneticVariation
|
BEFREE |
Identification of TP53 R248Q in this tumor correlated with its aggressive clinical behavior.
|
26260781 |
2015 |
Neoplasms
|
|
0.770 |
GeneticVariation
|
BEFREE |
We conclude that in the AA-derived TNBC HCC70 cells mtp53 R248Q expression results in a causative tumor associated phenotype.
|
26703669 |
2015 |
Neoplasms
|
|
0.770 |
GeneticVariation
|
BEFREE |
Here we use a novel mutp53 mouse model expressing an inactivatable R248Q hotspot mutation (floxQ) to show that tumours depend on sustained mutp53 expression.
|
26009011 |
2015 |
Neoplasms
|
|
0.770 |
GeneticVariation
|
CLINVAR |
Mutant p53 in cancer: new functions and therapeutic opportunities.
|
24651012 |
2014 |
Neoplasms
|
|
0.770 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
Neoplasms
|
|
0.770 |
GeneticVariation
|
BEFREE |
Interestingly, direct DNA sequencing of the paraffin-embedded tumor sample identified a novel R248Q mutation in the TP53 gene.
|
22534715 |
2012 |