rs1042522
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our results showed that the frequencies of genotypes for MDM2 SNP309 and TP53 Arg72Pro did not differ between MDS and healthy controls and that these polymorphisms were not associated with clinical and laboratory parameters, disease progression and overall survival, suggesting that MDM2 and TP53 polymorphisms are not involved in risk for MDS, or in the clinical and laboratory characteristics of the disease.
|
22668018 |
2012 |
rs1042522
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These data underscore the importance of TP53 R72P and MDM2 SNP309 SNPs in MDS, and provide a novel scoring system independent of IPSS that is predictive for disease outcome.
|
26416416 |
2015 |
rs1042522
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These findings comprise the largest MDS R72P SNP analysis.
|
25768405 |
2015 |
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, MDR-1 C3435T may have a protective effect against MDS progression because the expected lower expression of P-glycoprotein would lead to a higher degree of cell death.
|
23684483 |
2013 |
rs104894229
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs104894229
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs104894230
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs1057519960
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs1057520007
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We infer that U2AF1 S34 mutations characterize a distinct subgroup of MDS: younger age of onset and differential associations with particular cytogenetic aberrations depending on specific mutations [S34Y to +8; S34F to +8 and del(20q)].
|
28938223 |
2017 |
rs1131691014
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These findings comprise the largest MDS R72P SNP analysis.
|
25768405 |
2015 |
rs1131691014
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our results showed that the frequencies of genotypes for MDM2 SNP309 and TP53 Arg72Pro did not differ between MDS and healthy controls and that these polymorphisms were not associated with clinical and laboratory parameters, disease progression and overall survival, suggesting that MDM2 and TP53 polymorphisms are not involved in risk for MDS, or in the clinical and laboratory characteristics of the disease.
|
22668018 |
2012 |
rs1131691014
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These data underscore the importance of TP53 R72P and MDM2 SNP309 SNPs in MDS, and provide a novel scoring system independent of IPSS that is predictive for disease outcome.
|
26416416 |
2015 |
rs1131691041
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We infer that U2AF1 S34 mutations characterize a distinct subgroup of MDS: younger age of onset and differential associations with particular cytogenetic aberrations depending on specific mutations [S34Y to +8; S34F to +8 and del(20q)].
|
28938223 |
2017 |
rs11540652
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs11540652
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs11540652
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs1178981336
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In summary, our results indicate that a familial MDS-associated HLTF E259K germline mutation induces accumulation of DNA double-strand breaks, possibly through impaired PCNA polyubiquitination.
|
30696947 |
2019 |
rs118101777
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All the initial diagnostic specimens with IDH1 p.R132H mutation including acute myeloid leukemia (n=30), myelodysplastic syndromes (MDS) (n=10), MDS/myeloproliferative neoplasms (MPN) (n=4), and MPN (n=5) were positive by IHC, demonstrating 100% antibody sensitivity.
|
29635257 |
2018 |
rs121434595
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs121434596
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs121434596
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs121912651
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs121912651
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs121913237
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs121913237
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |