|
rs587782144
|
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
BEFREE |
One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome.
|
20455025 |
2010 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.
|
25584008 |
2015 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.
|
10486318 |
1999 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
|
28349240 |
2017 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
A global suppressor motif for p53 cancer mutants.
|
15037740 |
2004 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Differentially expressed downstream genes in cells with normal or mutated p53.
|
12725534 |
2003 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Lack of toxicity in a patient with germline TP53 mutation treated with radiotherapy.
|
24764719 |
2014 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Lack of toxicity in a patient with germline TP53 mutation treated with radiotherapy.
|
24764719 |
2014 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.
|
10486318 |
1999 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.
|
18685109 |
2008 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
|
10864200 |
2000 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
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 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions.
|
10229196 |
1999 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome.
|
20455025 |
2010 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
|
17606709 |
2007 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.
|
25584008 |
2015 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Predicting positive p53 cancer rescue regions using Most Informative Positive (MIP) active learning.
|
19756158 |
2009 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
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 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
|
26014290 |
2015 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data.
|
27328919 |
2016 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma.
|
23175693 |
2013 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers.
|
16861262 |
2007 |
|
rs587782144
|
|
Li-Fraumeni Syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome.
|
17308077 |
2007 |