|
rs1799782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Herein, we conducted a case-control study with 393 neuroblastoma patients and 812 controls to explore the association of <i>XRCC1</i> gene polymorphisms (rs1799782 G>A, rs25487 C>T, rs25489 C>T and rs915927 T>C) with neuroblastoma risk.
|
30362960 |
2018 |
|
rs25489
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Stratified analysis revealed that the <i>XRCC1</i> rs25489 CT/TT was strongly associated with reduced risk of neuroblastoma in the children ≤ 18 months of age and subgroup with clinical stage I+II+4s diseases, compared with CC genotypes.
|
30362960 |
2018 |
|
rs915927
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Herein, we conducted a case-control study with 393 neuroblastoma patients and 812 controls to explore the association of <i>XRCC1</i> gene polymorphisms (rs1799782 G>A, rs25487 C>T, rs25489 C>T and rs915927 T>C) with neuroblastoma risk.
|
30362960 |
2018 |
|
rs2228000
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the associations between three <i>XPC</i> gene polymorphisms (rs2228001 A>C, rs2228000 C>T, and rs2229090 G>C) and neuroblastoma risk with 256 neuroblastoma patients and 531 healthy controls in a Chinese Han population.
|
27847809 |
2016 |
|
rs2229090
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the associations between three <i>XPC</i> gene polymorphisms (rs2228001 A>C, rs2228000 C>T, and rs2229090 G>C) and neuroblastoma risk with 256 neuroblastoma patients and 531 healthy controls in a Chinese Han population.
|
27847809 |
2016 |
|
rs1800975
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this hospital-based case-control study with 393 cases and 812 controls, we genotyped two polymorphisms (rs1800975 T>C, and rs3176752 G>T) in <i>XPA</i> gene to access their contributions to neuroblastoma risk by TaqMan methods.
|
30087717 |
2018 |
|
rs3176752
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this hospital-based case-control study with 393 cases and 812 controls, we genotyped two polymorphisms (rs1800975 T>C, and rs3176752 G>T) in <i>XPA</i> gene to access their contributions to neuroblastoma risk by TaqMan methods.
|
30087717 |
2018 |
|
rs201668878
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One putative missense mutation (1028T > C, leading to I343T, residing in exon 8) was found in neuroblastoma tumour 20R8; this finding was confirmed by sequencing in both directions.
|
16386891 |
2006 |
|
rs1448674651
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, MTR A2756G, TYMS 2R/3R and SLC19A1 G80A, involved in folate metabolism, increase the risk of neuroblastoma in Brazilian children.
|
24771227 |
2014 |
|
rs587777074
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To elucidate the pathogenic mechanisms conferred by TUBB4A mutations leading to the different phenotypes, we functionally characterized three pathogenic TUBB4A variants (c.4C>G,p.R2G; c.745G>A,p.D249N; c.811G>A, p.A271T) as representatives of the mutational and disease spectrum) in human neuroblastoma cells and human induced pluripotent stem cell (iPSC)-derived neurons.
|
30079973 |
2018 |
|
rs28933979
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To understand the pathogenic mechanisms of this V30A TTR, we investigated the effects of this mutation on TTR quaternary and tertiary structural stabilities and cytotoxicities against neuroblastoma cells along with the most common variant V30M TTR and the wild-type (WT) TTR.
|
23523753 |
2013 |
|
rs28933981
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cytotoxicity assays revealed their toxicities in the order of Val30Met > Ala97Ser > WT > Thr119Met in neuroblastoma cells.
|
31728576 |
2019 |
|
rs79977247
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, an obviously cytotoxic effect of the V30A TTR on the human neuroblastoma cell line, IMR-32, was observed.
|
23523753 |
2013 |
|
rs4500567
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the impact of rs4500567 on TSPAN8 expression in vitro with luciferase-based promoter assays in human embryonic kidney (HEK293) and neuroblastoma cells (SH-SY5Y), and its effect on expression of downstream associated genes by microarray-based transcriptome analyses.
|
28777493 |
2017 |
|
rs538874513
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional characterization of naturally occurring mutants (P405R and P425L) of p73alpha and p73beta found in neuroblastoma and lung cancer.
|
11429704 |
2001 |
|
rs749098599
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Nevertheless, the G81A/C91T polymorphism, previously implicated in regulating the expression of p73, did not show any significant association with neuroblastoma development.
|
11205839 |
2001 |
|
rs1042522
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Overall, we confirmed that miR-34b/c rs4938723 and TP53 Arg72Pro conferred decreased neuroblastoma risk and two polymorphisms exerted stronger protective effects against neuroblastoma than either one alone.
|
31325764 |
2019 |
|
rs1042522
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These results indicate that the <i>TP53</i> gene rs1042522 allele G may be a potential protective factor against neu</span>roblastoma in Chinese children.
|
30719141 |
2019 |
|
rs1042522
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In our stratification analysis of age, gender, sites of origin, and clinical stages, we observed that subjects with rs1042522 CG/GG genotypes had a lower risk of developing neuroblastoma in the mediastinum (Adjusted OR=0.52, 95% CI=0.33-0.82, <i>P</i>=0.005) than those carrying the CC genotype.
|
28275206 |
2017 |
|
rs1131691014
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, we confirmed that miR-34b/c rs4938723 and TP53 Arg72Pro conferred decreased neuroblastoma risk and two polymorphisms exerted stronger protective effects against neuroblastoma than either one alone.
|
31325764 |
2019 |
|
rs121912651
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists.
|
17427234 |
2008 |
|
rs121912664
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data indicate that in addition to adrenocortical tumors, choroid plexus carcinoma, breast cancer and osteosarcoma, genetic counseling and clinical surveillance should consider neuroblastoma as a potential neoplasia affecting p.R337H carriers.
|
26452166 |
2015 |
|
rs35850753
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report on the analysis of three independent case-control cohorts comprising 10290 individuals and demonstrate that rs78378222 and rs35850753, rare germline variants in linkage disequilibrium that map to the 3' untranslated region (UTR) of TP53 and 5' UTR of the Δ133 isoform of TP53, respectively, are robustly associated with neuroblastoma (rs35850753: odds ratio [OR] = 2.7, 95% confidence interval [CI] = 2.0 to 3.6, P combined = 3.43×10(-12); rs78378222: OR = 2.3, 95% CI = 1.8 to 2.9, P combined = 2.03×10(-11)).All statistical tests were two-sided.
|
24634504 |
2014 |
|
rs78378222
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings add neuroblastoma to the complex repertoire of human cancers influenced by the rs78378222 hypomorphic allele, which impairs proper termination and polyadenylation of TP53 transcripts.
|
24634504 |
2014 |
|
rs786203436
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Nevertheless, the G81A/C91T polymorphism, previously implicated in regulating the expression of p73, did not show any significant association with neuroblastoma development.
|
11205839 |
2001 |