rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
Germline TP53 mutational spectrum in French Canadians with breast cancer.
25925845
2015
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
Unequal prognostic potentials of p53 gain-of-function mutations in human cancers associate with drug-metabolizing activity.
24603336
2014
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
A young woman with bilateral breast cancer: identifying a genetic cause and implications for management.
23667202
2013
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation.
23950206
2013
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
GeneticVariation
CLINVAR
FOXM1 is a molecular determinant of the mitogenic and invasive phenotype of anaplastic thyroid carcinoma.
22919068
2012
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
Mutant p53: one name, many proteins.
22713868
2012
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
GeneticVariation
CLINVAR
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.
21601526
2011
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
GeneticVariation
CLINVAR
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
21343334
2011
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
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
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
Here, we report a family with LFS harboring a germline TP53 mutation (R248W ) located in the functional domain of the protein that binds to the minor groove of the DNA.
19378321
2009
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists.
17427234
2008
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
17606709
2007
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
GeneticVariation
CLINVAR
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
17606709
2007
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
p53 gain-of-function cancer mutants induce genetic instability by inactivating ATM.
17417627
2007
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
GeneticVariation
CLINVAR
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
12826609
2003
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
GeneticVariation
CLINVAR
Complex functions of mutant p53 alleles from human prostate cancer.
11920959
2002
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.
9598730
1998
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations.
9825943
1998
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
9242456
1997
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
GeneticVariation
CLINVAR
Screening the p53 status of human cell lines using a yeast functional assay.
9290701
1997
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
The first documentation of Li-Fraumeni syndrome in Korea.
8527048
1995
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
Gain of function mutations in p53.
8099841
1993
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer.
8425176
1993
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein.
1631137
1992
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
A
0.820
CausalMutation
CLINVAR
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
1978757
1990