rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.800
CausalMutation
CLINVAR
Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy.
24677579
2014
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.800
GeneticVariation
UNIPROT
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
24493721
2014
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.800
CausalMutation
CLINVAR
Gastric cancer in individuals with Li-Fraumeni syndrome.
21552135
2011
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.800
CausalMutation
CLINVAR
Gastric cancer in individuals with Li-Fraumeni syndrome.
21552135
2011
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.800
CausalMutation
CLINVAR
"Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation."
21535297
2011
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.800
GeneticVariation
CLINVAR
"Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation."
21535297
2011
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.800
CausalMutation
CLINVAR
Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome.
20693561
2011
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.800
GeneticVariation
CLINVAR
Gastric cancer in individuals with Li-Fraumeni syndrome.
21552135
2011
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.800
CausalMutation
CLINVAR
"Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation."
21535297
2011
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.800
CausalMutation
CLINVAR
Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.
20128691
2010
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.800
GeneticVariation
CLINVAR
High frequency of de novo mutations in Li-Fraumeni syndrome.
19556618
2009
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.800
GeneticVariation
CLINVAR
EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome.
17540308
2007
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.800
GeneticVariation
UNIPROT
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
17392385
2007
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.800
GeneticVariation
CLINVAR
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
17606709
2007
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.800
CausalMutation
CLINVAR
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
17606709
2007
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.800
CausalMutation
CLINVAR
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
17606709
2007
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.800
CausalMutation
CLINVAR
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
12826609
2003
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.800
GeneticVariation
CLINVAR
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
12826609
2003
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.800
GeneticVariation
UNIPROT
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
10484981
1999
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.800
GeneticVariation
UNIPROT
A germline missense mutation R337C in exon 10 of the human p53 gene.
9452042
1998
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.800
GeneticVariation
UNIPROT
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
8825920
1995
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.800
GeneticVariation
UNIPROT
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.
7887414
1995
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.800
GeneticVariation
CLINVAR
Distinct residues of human p53 implicated in binding to DNA, simian virus 40 large T antigen, 53BP1, and 53BP2.
7969167
1994
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.800
CausalMutation
CLINVAR
Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings.
8479749
1993
rs121913343
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.800
GeneticVariation
CLINVAR
Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings.
8479749
1993