|
rs121912664
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
|
10864200 |
2000 |
|
rs121912664
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
|
8825920 |
1995 |
|
rs121912664
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
|
10484981 |
1999 |
|
rs121912664
|
|
|
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
|
|
|
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
|
|
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
|
|
G |
0.900 |
GeneticVariation |
CLINVAR |
The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.
|
16007150 |
2005 |
|
rs121912664
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.
|
1737852 |
1992 |
|
rs121912664
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A germ line mutation in exon 5 of the p53 gene in an extended cancer family.
|
1933902 |
1991 |
|
rs121912664
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.
|
12692171 |
2003 |
|
rs121912664
|
|
|
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
|
|
G |
0.900 |
GeneticVariation |
CLINVAR |
Evaluation of transcriptional activity of p53 in individual living mammalian cells.
|
19454241 |
2009 |
|
rs121912664
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.
|
1565144 |
1992 |
|
rs121912664
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
|
1978757 |
1990 |
|
rs121912664
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.
|
16033918 |
2006 |
|
rs121912664
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.
|
20407015 |
2010 |
|
rs121912664
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.
|
2259385 |
1991 |
|
rs121912664
|
|
|
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
|
|
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 |