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
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
17606709
2007
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
24493721
2014
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
0.820
GeneticVariation
UNIPROT
A germ line mutation in exon 5 of the p53 gene in an extended cancer family.
1933902
1991
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
0.820
GeneticVariation
UNIPROT
Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.
1737852
1992
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
Gain of function mutations in p53.
8099841
1993
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
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
0.820
GeneticVariation
BEFREE
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
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
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
0.820
GeneticVariation
UNIPROT
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.
7887414
1995
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
The first documentation of Li-Fraumeni syndrome in Korea.
8527048
1995
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
10484981
1999
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
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
Complex functions of mutant p53 alleles from human prostate cancer.
11920959
2002
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
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
0.820
GeneticVariation
UNIPROT
A germline missense mutation R337C in exon 10 of the human p53 gene.
9452042
1998
rs121912651
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
17392385
2007