rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.810
CausalMutation
CLINVAR
Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.
24122735
2013
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.
7783166
1995
rs28934575
×
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
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.
1565143
1992
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.810
GeneticVariation
UNIPROT
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
15604628
2004
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.
11370630
2001
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib.
24835218
2014
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Mutant p53 proteins bind DNA in a DNA structure-selective mode.
15722483
2005
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Incidence of germ-line p53 mutations in patients with gliomas.
8550239
1995
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Li-Fraumeni syndrome--a molecular and clinical review.
9218725
1997
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.810
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
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.810
CausalMutation
CLINVAR
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.
17311302
2007
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
We identified a missense germline mutation (Gly245Ser ) in one of the mutation hot spots of the TP53 gene in two affected members of a Li-Fraumeni syndrome family.
12885464
2003
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.810
CausalMutation
CLINVAR
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
21343334
2011
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.
24122735
2013
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.810
CausalMutation
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312
2016
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
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
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
p53 gene mutations in pediatric brain tumors.
7565304
1995
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Screening for germ line TP53 mutations in breast cancer patients.
1591732
1992
rs28934575
×
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
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.810
GeneticVariation
UNIPROT
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
17392385
2007
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.810
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.
20128691
2010
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.810
GeneticVariation
UNIPROT
A germline missense mutation R337C in exon 10 of the human p53 gene.
9452042
1998
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.810
CausalMutation
CLINVAR
Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.
12917626
2003