rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
The arginine to histidine substitution at amino acid position 337 of p53 (R337H) is a founder mutation highly prevalent in southern and southeastern Brazil and is considered an LFS mutation.
|
30042151 |
2018 |
rs121912664
|
|
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
|
|
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
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
The germline TP53-R337H mutation is strongly associated with pediatric adrenocortical tumors (ACT) in southern Brazil; it has low penetrance and limited tissue specificity in most families and therefore is not associated with Li-Fraumeni syndrome.
|
19046423 |
2008 |
rs121912664
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
ChIP-Seq analysis of LFS lymphocytes carrying TP53 null mutations (p.P152Rfs*18 or complete deletion) or the low penetrant 'Brazilian' p.R337H mutation revealed a moderate decrease of p53-binding sites (949, 580 and 620, respectively) and of ChIP-Seq peak depths.
|
28369373 |
2017 |
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
In this cohort of patients with LFS enriched in TP53 p.R337H pathogenic variant, the incidence of RIMs after treatment of localized breast cancer was lower than previous literature.
|
31748977 |
2020 |
rs121912664
|
|
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
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
BEFREE |
The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are core-component tumors of the Li-Fraumeni syndrome.
|
21192060 |
2011 |