|
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 |
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 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 |
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 |
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 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 |
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 |
|
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 |
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 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 |
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
|
|
Neoplastic Syndromes, Hereditary
|
|
0.710 |
GeneticVariation
|
BEFREE |
We have assessed the prevalence of p.R337H in two groups: (1) 59 BC affected women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features; (2) 815 BC affected women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older.
|
24936644 |
2014 |
|
rs121912664
|
|
Mammary Neoplasms
|
|
0.710 |
GeneticVariation
|
BEFREE |
A TP53 founder mutation, p.R337H, is associated with phyllodes breast tumors in Brazil.
|
23794094 |
2013 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors.
|
31728854 |
2020 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
We investigated tumor profile data and outcomes of individuals and their close relatives with the TP53 p.R337H germline mutation.
|
30974190 |
2019 |
|
rs121912664
|
|
Primary malignant neoplasm
|
|
0.100 |
GeneticVariation
|
BEFREE |
By modeling a <i>TP53</i> mutation in mice that has relatively weak cancer penetrance, this study provides <i>in vivo</i> evidence that the human R337H mutation can compromise p53 activity and promote tumorigenesis.<b>Significance:</b> A germline mutation in the oligomerization domain of p53 decreases its transactivation potential and renders mice susceptible to carcinogen-induced liver tumorigenesis.<i>Cancer Res; 78(18); 5375-83.©2018 AACR</i>.
|
30042151 |
2018 |
|
rs121912664
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
By modeling a <i>TP53</i> mutation in mice that has relatively weak cancer penetrance, this study provides <i>in vivo</i> evidence that the human R337H mutation can compromise p53 activity and promote tumorigenesis.<b>Significance:</b> A germline mutation in the oligomerization domain of p53 decreases its transactivation potential and renders mice susceptible to carcinogen-induced liver tumorigenesis.<i>Cancer Res; 78(18); 5375-83.©2018 AACR</i>.
|
30042151 |
2018 |
|
rs121912664
|
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Adrenocortical tumors associated with the TP53 p.R337H germline mutation can be identified during child-care consultations.
|
28864397 |
2018 |
|
rs121912664
|
|
Primary malignant neoplasm
|
|
0.100 |
GeneticVariation
|
BEFREE |
In southern Brazil, pediatric adrenocortical tumor is a sentinel cancer for detecting families with germline p.R337H mutation in TP53 gene.
|
28864397 |
2018 |
|
rs121912664
|
|
Primary malignant neoplasm
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, our results suggest that MDM2 SNP 309 may contribute to the LFL phenotype and also to an earlier age at diagnosis of ACC and BC cancer in carriers of the R337H founder mutation.
|
28756477 |
2018 |
|
rs121912664
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, our results suggest that MDM2 SNP 309 may contribute to the LFL phenotype and also to an earlier age at diagnosis of ACC and BC cancer in carriers of the R337H founder mutation.
|
28756477 |
2018 |
|
rs121912664
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
In southern Brazil, pediatric adrenocortical tumor is a sentinel cancer for detecting families with germline p.R337H mutation in TP53 gene.
|
28864397 |
2018 |
|
rs121912664
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
TP53 R337H carriers have a lifelong predisposition to cancer with a bimodal age distribution: 1 peak, represented by ACT, occurs in the first decade of life, and another peak of diverse cancer types occurs in the fifth decade.
|
28387921 |
2017 |