|
rs71305152
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the astrocytoma subtype, higher ZFPM2 expression was also correlated with the rs71305152 heterozygous genotype (P = 0.028).
|
26207917 |
2015 |
|
rs9288516
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNP (rs9288516) in XRCC5 (HR: 1.69, 95%CI: 1.04 - 2.77, p = 0.049), surgical approach (HR: 0.61, 95%CI: 0.43 - 0.88, p = 0.003) and chemotherapy (HR: 0.71, 95%CI: 0.50 - 0.99, p = 0.029) were associated with astrocytoma prognosis.
|
27852033 |
2016 |
|
rs1476157710
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, an in vitro functional assay showed that S73F and S23G mutants of beta-catenin did not affect transcriptional activity in TCF-4-leuciferase reporter construct, suggesting that they may need more complex factors to participate in astrocytoma.
|
12049819 |
2002 |
|
rs1042522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Specifically, we found (i) that the genotype distributions of the P53 Arg72Pro between all brain tumors and controls were statistically significant (P < 0.001) as well as their variant allele frequencies between cases and controls (P < 0.001); (ii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas compared with non-astrocytomas (P = 0.002); and (iii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas containing transdominant as well as recessive p53 mutations compared with controls (P = 0.002).
|
15950766 |
2005 |
|
rs1131691014
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Specifically, we found (i) that the genotype distributions of the P53 Arg72Pro between all brain tumors and controls were statistically significant (P < 0.001) as well as their variant allele frequencies between cases and controls (P < 0.001); (ii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas compared with non-astrocytomas (P = 0.002); and (iii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas containing transdominant as well as recessive p53 mutations compared with controls (P = 0.002).
|
15950766 |
2005 |
|
rs371409680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To examine this issue, we analyzed the significance of sequential accumulation of two somatic point mutations (R267W and E258D) in the TP53 gene during the initiation of astrocytoma in a patient born with a single germ-line p53 point mutation (R283H).
|
12019170 |
2002 |
|
rs55819519
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No IDH1-R132H mutation was detected in 2 of 2 (0%) astrocytomas by immunohistochemistry.
|
26990854 |
2016 |
|
rs55832599
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To examine this issue, we analyzed the significance of sequential accumulation of two somatic point mutations (R267W and E258D) in the TP53 gene during the initiation of astrocytoma in a patient born with a single germ-line p53 point mutation (R283H).
|
12019170 |
2002 |
|
rs770374782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations.
|
19340432 |
2009 |
|
rs866419664
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To examine this issue, we analyzed the significance of sequential accumulation of two somatic point mutations (R267W and E258D) in the TP53 gene during the initiation of astrocytoma in a patient born with a single germ-line p53 point mutation (R283H).
|
12019170 |
2002 |
|
rs878854066
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Specifically, we found (i) that the genotype distributions of the P53 Arg72Pro between all brain tumors and controls were statistically significant (P < 0.001) as well as their variant allele frequencies between cases and controls (P < 0.001); (ii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas compared with non-astrocytomas (P = 0.002); and (iii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas containing transdominant as well as recessive p53 mutations compared with controls (P = 0.002).
|
15950766 |
2005 |
|
rs2853676
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the additive model, all three tSNPs (rs2297440, rs2853676, and rs6010620) were associated with increased astrocytoma risk.
|
23812731 |
2013 |
|
rs766727892
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, an in vitro functional assay showed that S73F and S23G mutants of beta-catenin did not affect transcriptional activity in TCF-4-leuciferase reporter construct, suggesting that they may need more complex factors to participate in astrocytoma.
|
12049819 |
2002 |
|
rs867657798
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, an in vitro functional assay showed that S73F and S23G mutants of beta-catenin did not affect transcriptional activity in TCF-4-leuciferase reporter construct, suggesting that they may need more complex factors to participate in astrocytoma.
|
12049819 |
2002 |
|
rs868162712
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, an in vitro functional assay showed that S73F and S23G mutants of beta-catenin did not affect transcriptional activity in TCF-4-leuciferase reporter construct, suggesting that they may need more complex factors to participate in astrocytoma.
|
12049819 |
2002 |
|
rs12594
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cox regression analysis shows that RYR2 rs12594 AA genotype and AG genotype were associated with OS of astrocytoma (AG genotype: HR = 1.62, 95% CI 1.04-2.53, p = 0.034; AA genotype: HR = 1.70, 95% CI 1.08-2.68, p = 0.021).
|
31440994 |
2019 |
|
rs16835904
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Stratified analysis shows that RYR2 rs16835904 TC-TT genotype facilitated the risk of astrocytoma in male (OR = 1.93, 95% CI 1.15-3.24, p = 0.011).
|
31440994 |
2019 |
|
rs2297440
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Moreover, the stratified analyses showed a decreased risk of astrocytoma associated with RTEL1 rs6089953, rs6010620 and rs2297440 (p trend = 0.022, p trend = 0.042, p trend = 0.029, respectively) as well as an increased risk of this subtype associated with RTEL1 rs4809324 (p trend = 0.033).
|
26014354 |
2015 |
|
rs2297440
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In the recessive model, we found two tSNPs (rs2297440 and rs6010620) associated with increased astrocytoma risk.
|
23812731 |
2013 |
|
rs4809324
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, the stratified analyses showed a decreased risk of astrocytoma associated with RTEL1 rs6089953, rs6010620 and rs2297440 (p trend = 0.022, p trend = 0.042, p trend = 0.029, respectively) as well as an increased risk of this subtype associated with RTEL1 rs4809324 (p trend = 0.033).
|
26014354 |
2015 |
|
rs6010620
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the additive model, all three tSNPs (rs2297440, rs2853676, and rs6010620) were associated with increased astrocytoma risk.
|
23812731 |
2013 |
|
rs6089953
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, the stratified analyses showed a decreased risk of astrocytoma associated with RTEL1 rs6089953, rs6010620 and rs2297440 (p trend = 0.022, p trend = 0.042, p trend = 0.029, respectively) as well as an increased risk of this subtype associated with RTEL1 rs4809324 (p trend = 0.033).
|
26014354 |
2015 |
|
rs751857027
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations.
|
19340432 |
2009 |
|
rs121918464
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs121918465
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |