rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.900
CausalMutation
CLINVAR
P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
10864200
2000
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
UNIPROT
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
8825920
1995
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
UNIPROT
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
10484981
1999
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
BEFREE
These findings indicate that R337H may be a low penetrance mutant which predisposes to multiple cancers and occurs in the population of Southern Brazil at a frequency 10-20 times higher than other TP53 mutants commonly associated with LFS .
18248785
2008
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
BEFREE
Mutation of Arg337 to histidine in the tetramerization domain of p53 is most frequently observed in Li-Fraumeni syndrome .
20605095
2010
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
G
0.900
GeneticVariation
CLINVAR
Distinct prognostic values of p53 mutations and loss of estrogen receptor and their cumulative effect in primary breast cancers.
10719737
2000
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
G
0.900
GeneticVariation
CLINVAR
The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.
16007150
2005
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
UNIPROT
Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.
1737852
1992
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
BEFREE
Overall, 101 of 193 TP53 p.R337H mutation carriers with LFS from 58 families were cancer affected and, among them, thyroid carcinoma presented a prevalence of 10.9% (3 men and 8 women).
28114597
2017
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
UNIPROT
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
24493721
2014
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
BEFREE
Analysis of the patterns of 103 tumors diagnosed in 12 families showed that the presence of p.R337H is associated with multiple cancers of the Li-Fraumeni Syndrome (LFS ) spectrum, with relatively low penetrance before the age of 30 but a lifetime risk comparable to classical LFS .
19877175
2010
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
BEFREE
We compared the CNV profiles of controls, and LFS individuals carrying either p.R337H or DNA binding domain (DBD) TP53 mutations by high resolution array-CGH.
23259501
2012
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
UNIPROT
A germ line mutation in exon 5 of the p53 gene in an extended cancer family.
1933902
1991
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
UNIPROT
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.
12692171
2003
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
BEFREE
The p.R337H mutation in TP53 gene was found in one patient clinically diagnosed as HBOC and without clinical criteria for Li-Fraumeni syndrome .
30535581
2019
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
G
0.900
GeneticVariation
CLINVAR
Evaluation of transcriptional activity of p53 in individual living mammalian cells.
19454241
2009
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
BEFREE
Clinical spectrum of Li-Fraumeni syndrome /Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation.
30974190
2019
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
BEFREE
In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS , Li-Fraumeni-like syndrome.
25945745
2015
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
UNIPROT
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.
1565144
1992
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
UNIPROT
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
1978757
1990
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.900
CausalMutation
CLINVAR
Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.
16033918
2006
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
T
0.900
CausalMutation
CLINVAR
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.
20407015
2010
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
UNIPROT
Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.
2259385
1991
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
0.900
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs121912664
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
Li-Fraumeni Syndrome
G
0.900
GeneticVariation
CLINVAR
p53 status correlates with the differential expression of the DNA mismatch repair protein MSH2 in non-small cell lung carcinoma.
12209975
2002