rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
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
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.810
CausalMutation
CLINVAR
Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.
10486318
1999
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
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
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.810
CausalMutation
CLINVAR
A global suppressor motif for p53 cancer mutants.
15037740
2004
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.810
CausalMutation
CLINVAR
Differentially expressed downstream genes in cells with normal or mutated p53.
12725534
2003
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Lack of toxicity in a patient with germline TP53 mutation treated with radiotherapy.
24764719
2014
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.810
GeneticVariation
UNIPROT
A germ line mutation in exon 5 of the p53 gene in an extended cancer family.
1933902
1991
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
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
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
GeneticVariation
CLINVAR
Lack of toxicity in a patient with germline TP53 mutation treated with radiotherapy.
24764719
2014
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.
10486318
1999
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.810
GeneticVariation
UNIPROT
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
8825920
1995
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.
18685109
2008
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.810
GeneticVariation
UNIPROT
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
24493721
2014
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.810
GeneticVariation
UNIPROT
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
1978757
1990
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
10864200
2000
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
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
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
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
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
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
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
17606709
2007
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
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
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
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
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.810
CausalMutation
CLINVAR
Predicting positive p53 cancer rescue regions using Most Informative Positive (MIP) active learning.
19756158
2009
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
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
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.810
GeneticVariation
UNIPROT
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.
1565144
1992
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
26014290
2015