rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
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
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
16494995
2007
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.
16401470
2006
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
Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.
15925506
2005
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
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
The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.
15951970
2005
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
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
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
A
0.810
CausalMutation
CLINVAR
Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.
12917626
2003
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.
12917626
2003
rs28934575
×
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
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.810
GeneticVariation
UNIPROT
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.
12692171
2003
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.810
GeneticVariation
BEFREE
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
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
A
0.810
CausalMutation
CLINVAR
Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families.
10922393
2000
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.810
GeneticVariation
UNIPROT
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
10484981
1999
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Dominant-negative mutations of the tumor suppressor p53 relating to early onset of glioblastoma multiforme.
10519380
1999
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
T
0.810
CausalMutation
CLINVAR
Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning.
9667734
1998
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
T
0.810
CausalMutation
CLINVAR
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
9242456
1997
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
Incidence of germ-line p53 mutations in patients with gliomas.
8550239
1995