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
T
0.810
GeneticVariation
CLINVAR
TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data.
27328919
2016
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
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
T
0.810
CausalMutation
CLINVAR
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
26014290
2015
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
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
T
0.810
GeneticVariation
CLINVAR
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
25741868
2015
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
GeneticVariation
CLINVAR
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
26014290
2015
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
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
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
T
0.810
CausalMutation
CLINVAR
Tongue carcinoma infrequently harbor common actionable genetic alterations.
25234657
2014
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
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
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.
23894400
2013
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
GeneticVariation
CLINVAR
Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma.
23175693
2013
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.810
CausalMutation
CLINVAR
High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.
23894400
2013
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
TP53 germline mutations in adult patients with adrenocortical carcinoma.
22170717
2012
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
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
CausalMutation
CLINVAR
Multiple primary cutaneous melanomas in Li-Fraumeni syndrome.
21339461
2011
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
GeneticVariation
CLINVAR
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.
21601526
2011
rs587782144
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.
21601526
2011
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
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
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