rs121912666
×
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
rs121912666
×
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
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
CausalMutation
CLINVAR
A global suppressor motif for p53 cancer mutants.
15037740
2004
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
CausalMutation
CLINVAR
A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations.
20805372
2010
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
25394175
2015
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
CausalMutation
CLINVAR
Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families.
10922393
2000
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
CausalMutation
CLINVAR
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.
20407015
2010
rs121912666
×
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
rs121912666
×
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
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
20065170
2010
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.
12692171
2003
rs121912666
×
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
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
CausalMutation
CLINVAR
Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.
20128691
2010
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
G
0.820
CausalMutation
CLINVAR
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
21343334
2011
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
CausalMutation
CLINVAR
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
21343334
2011
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
CausalMutation
CLINVAR
Early detection of adrenocortical carcinoma in a child with Li-Fraumeni syndrome.
19101993
2009
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
CausalMutation
CLINVAR
Early onset HER2-positive breast cancer is associated with germline TP53 mutations.
21761402
2012
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
BEFREE
Genetic analysis revealed a germline missense mutation in the p53 gene (c.659 A > G), resulting in Y220C , which has been reported in three families with LFS .
18307025
2008
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
CausalMutation
CLINVAR
Genetic analysis revealed a germline missense mutation in the p53 gene (c.659 A > G), resulting in Y220C , which has been reported in three families with LFS .
18307025
2008
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.820
GeneticVariation
UNIPROT
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
15604628
2004
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
CausalMutation
CLINVAR
Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases.
24702488
2015
rs121912666
×
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
rs121912666
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
C
0.820
CausalMutation
CLINVAR
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
9242456
1997