Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
One of the earliest genetic aberrations is a missense mutation of codon 179 (His179Asn) in the tumor suppressor gene TP53 leading to outgrowth of a cell type expressing only the mutant form of TP53.
|
10616528 |
2000 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
The over-expression of p53 H179Y residue mutation causes the increase of cyclin A1 and Cdk4 expression in HELF cells.
|
17530187 |
2007 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
[Germline tp53 neomutation in a patient with Li-Fraumeni syndrome and pancreatic adenocarcinoma].
|
16633321 |
2006 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature.
|
25433984 |
2015 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutant p53 confers chemoresistance in non-small cell lung cancer by upregulating Nrf2.
|
26497680 |
2015 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Tumour p53 mutations exhibit promoter selective dominance over wild type p53.
|
11896595 |
2002 |
Li-Fraumeni Syndrome
|
|
0.800 |
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
|
|
0.800 |
CausalMutation
|
CLINVAR |
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.
|
18511570 |
2008 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
A novel p53 mutant retained functional activity in lung carcinomas.
|
12509279 |
2002 |
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
p53 polymorphism influences response in cancer chemotherapy via modulation of p73-dependent apoptosis.
|
12726864 |
2003 |
Adenocarcinoma of pancreas
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Malignant Uterine Corpus Neoplasm
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Dominant-negative p53 mutations selected in yeast hit cancer hot spots.
|
8633021 |
1996 |
Adenocarcinoma of pancreas
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Cutaneous Melanoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Liver carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Malignant Uterine Corpus Neoplasm
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Malignant Uterine Corpus Neoplasm
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Brain Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.
|
28369373 |
2017 |
ovarian neoplasm
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
Squamous cell carcinoma of lung
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
LI-FRAUMENI SYNDROME 1
|
|
0.700 |
GeneticVariation
|
CLINVAR |
EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature.
|
25433984 |
2015 |
Serous cystadenocarcinoma ovary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Liver carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |