|
rs587777706
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay.
|
23785305 |
2013 |
|
rs587777706
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay.
|
23785305 |
2013 |
|
rs587777706
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057520063
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs398123425
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs886039811
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs121912664
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Here, we review ∼15 years of research into an unusual germline TP53 mutation (p.R337H) that began with its detection in children with adrenocortical carcinoma (ACC), a remarkably rare childhood cancer that is associated with poor prognosis.
|
27663983 |
2016 |
|
rs121912664
|
|
|
0.070 |
GeneticVariation |
BEFREE |
These results suggest that inheritance of p.R337H may significantly contribute to the high incidence of BC in Brazil, in addition to its recently demonstrated impact on the risk of childhood ACC.
|
24936644 |
2014 |
|
rs121912664
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In Brazil, a particular mutation, occurring in the tetramerisation domain of the gene, p.R337H, is exceedingly common due to a founder effect and is strongly associated with ACC.
|
23570263 |
2013 |
|
rs121912664
|
|
|
0.070 |
GeneticVariation |
BEFREE |
TP53 p.R337H testing should be offered to Brazilian children diagnosed with ACC and choroid plexus carcinoma.
|
24122735 |
2013 |
|
rs121912664
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The availability of a reliable molecular marker to detect the R337P TP53 mutation allows the rapid identification of carriers in families that have a child with ACC.
|
20426520 |
2010 |
|
rs121912664
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The tetramerization domain for wild-type p53 (p53tet-wt) and a p53 mutant, R337H (p53tet-R337H), associated with adrenocortical carcinoma (ACC) in children, can be converted from the soluble native state to amyloid-like fibrils under certain conditions.
|
12634062 |
2003 |
|
rs121912664
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Therefore, this inherited R337H p53 mutation represents a low-penetrance p53 allele that contributes in a tissue-specific manner to the development of pediatric ACC.
|
11481490 |
2001 |
|
rs11893842
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The minor allele of rs11893842 at -124 bp was observed at a low frequency (24%) in ACC samples and was associated with decreased INHA mRNA levels: 4.7±1.9 arbitrary units for AA, compared to 26±11 for AG/GG genotypes (P = 0.034).
|
25111790 |
2014 |
|
rs1285675735
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TERT promoter mutations were found in seven out of 289 tumors and in three out of 18 human cell lines; four C228T mutations in 38 ACCs (10.5%), two C228T mutations in 18 ea PGLs (11.1%), one C250T mutation in 36 GISTs (2.8%), and three C228T mutations in 16 human NBL cell lines (18.75%).
|
24951106 |
2014 |
|
rs148634289
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TERT promoter mutations were found in seven out of 289 tumors and in three out of 18 human cell lines; four C228T mutations in 38 ACCs (10.5%), two C228T mutations in 18 ea PGLs (11.1%), one C250T mutation in 36 GISTs (2.8%), and three C228T mutations in 16 human NBL cell lines (18.75%).
|
24951106 |
2014 |
|
rs587780072
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, three mutations are described for the first time in ACC, and one, which occurred combined with a second mutation (R202C) on the same allele, has never been reported before in the context of LFS.
|
22170717 |
2012 |
|
rs1464311
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Through a genome-wide linkage analysis, we detected a locus for autosomal-dominant ACC-TTLD on 3q generating a maximum LOD score of 4.93 at marker rs1464311.
|
21565291 |
2011 |
|
rs1695
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study is to investigate the association of GSTP1 Ile105Val genetic polymorphism with oxaliplatin efficacy and toxicity in advanced colorectal cancer (ACC) patients.
|
19084393 |
2009 |
|
rs1190999960
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we transfected nondegradable p27 mutant (T187A) and wild-type gene into A</span>CC cell line.
|
17431674 |
2007 |
|
rs1250394819
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we transfected nondegradable p27 mutant (T187A) and wild-type gene into A</span>CC cell line.
|
17431674 |
2007 |
|
rs568887534
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we transfected nondegradable p27 mutant (T187A) and wild-type gene into A</span>CC cell line.
|
17431674 |
2007 |