|
Liver carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Serous cystadenocarcinoma ovary
|
|
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 |
|
Esophageal carcinoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adenocarcinoma of prostate
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Brain Stem Glioma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adenocarcinoma of pancreas
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Squamous cell carcinoma of the head and neck
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Transitional cell carcinoma of bladder
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer.
|
8425176 |
1993 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
|
17606709 |
2007 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation.
|
23950206 |
2013 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.
|
9598730 |
1998 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Gain of function mutations in p53.
|
8099841 |
1993 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
|
9242456 |
1997 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Unequal prognostic potentials of p53 gain-of-function mutations in human cancers associate with drug-metabolizing activity.
|
24603336 |
2014 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists.
|
17427234 |
2008 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
The first documentation of Li-Fraumeni syndrome in Korea.
|
8527048 |
1995 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations.
|
9825943 |
1998 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
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
|
|
0.820 |
CausalMutation
|
CLINVAR |
Mutant p53: one name, many proteins.
|
22713868 |
2012 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
A young woman with bilateral breast cancer: identifying a genetic cause and implications for management.
|
23667202 |
2013 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
p53 gain-of-function cancer mutants induce genetic instability by inactivating ATM.
|
17417627 |
2007 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Germline TP53 mutational spectrum in French Canadians with breast cancer.
|
25925845 |
2015 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Here, we report a family with LFS harboring a germline TP53 mutation (R248W) located in the functional domain of the protein that binds to the minor groove of the DNA.
|
19378321 |
2009 |