rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.820
CausalMutation
CLINVAR
Mutational processes shape the landscape of TP53 mutations in human cancer.
30224644
2018
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
BEFREE
Here we report on a child with Li-Fraumeni syndrome with a de novo TP53 mutation c.818G>A , who developed three malignancies at the age of 4 months, 4 and 5 years, respectively.
25787918
2015
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
25394175
2015
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
26014290
2015
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.820
CausalMutation
CLINVAR
Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.
25584008
2015
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
24493721
2014
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.820
CausalMutation
CLINVAR
Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy.
24677579
2014
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.820
CausalMutation
CLINVAR
Mutant p53R273H attenuates the expression of phase 2 detoxifying enzymes and promotes the survival of cells with high levels of reactive oxygen species.
22899716
2012
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
BEFREE
Patient 1 with LFS and TP53(R273H ) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years.
21484931
2011
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.820
CausalMutation
CLINVAR
Gastric cancer in individuals with Li-Fraumeni syndrome.
21552135
2011
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.820
CausalMutation
CLINVAR
Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome.
20693561
2011
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.820
CausalMutation
CLINVAR
Patient 1 with LFS and TP53(R273H ) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years.
21484931
2011
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
20065170
2010
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.820
CausalMutation
CLINVAR
The tumor suppressor p53: from structures to drug discovery.
20516128
2010
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.820
CausalMutation
CLINVAR
EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome.
17540308
2007
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.820
CausalMutation
CLINVAR
p53 dominant-negative mutant R273H promotes invasion and migration of human endometrial cancer HHUA cells.
17636407
2007
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
17392385
2007
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.820
CausalMutation
CLINVAR
Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.
16401470
2006
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
15604628
2004
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.820
CausalMutation
CLINVAR
Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation.
15390294
2004
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.820
CausalMutation
CLINVAR
Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome.
15607980
2004
rs28934576
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.820
CausalMutation
CLINVAR
Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.
12672316
2003