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
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
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
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
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
Mutant p53 proteins bind DNA in a DNA structure-selective mode.
15722483
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
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
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
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
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
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
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
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
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
20065170
2010
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
A
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
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
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
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
Early onset HER2-positive breast cancer is associated with germline TP53 mutations.
21761402
2012
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.810
CausalMutation
CLINVAR
Establishment and characterization of the first pediatric adrenocortical carcinoma xenograft model identifies topotecan as a potential chemotherapeutic agent.
23406775
2013
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.810
CausalMutation
CLINVAR
Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis.
23538418
2013
rs28934575
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.810
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013