rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.
2259385
1991
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
Mutant p53: one name, many proteins.
22713868
2012
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
8825920
1995
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
1978757
1990
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
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
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
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
0.820
GeneticVariation
UNIPROT
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.
1565144
1992
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
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
0.820
GeneticVariation
BEFREE
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