|
rs1042522
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.030 |
GeneticVariation
|
BEFREE |
These findings comprise the largest MDS R72P SNP analysis.
|
25768405 |
2015 |
|
rs1042522
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs1045642
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs1057520007
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs1131691014
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.030 |
GeneticVariation
|
BEFREE |
These findings comprise the largest MDS R72P SNP analysis.
|
25768405 |
2015 |
|
rs1131691041
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs1178981336
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs121913488
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
One patient had FLT3/TKD mutation (D835Y) at both MDS and AML stages.
|
14737077 |
2004 |
|
rs121913499
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.710 |
GeneticVariation
|
BEFREE |
In the current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C).
|
22033490 |
2012 |
|
rs121913500
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.710 |
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 |
|
rs121913502
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.720 |
GeneticVariation
|
BEFREE |
Intriguingly, the IDH2 mutation p.R140Q and novel IDH1 mutation p.I99M co-occurred in a 75-year-old patient with AML developed from myelodysplastic syndromes (MDS).
|
20946881 |
2010 |
|
rs121913502
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.720 |
GeneticVariation
|
BEFREE |
In the current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C).
|
22033490 |
2012 |
|
rs121913507
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.020 |
GeneticVariation
|
BEFREE |
We treated a patient with MCL (with an associated myelodysplastic syndrome (MDS)/myeloproliferative disorder [MPD]) based on in vitro studies demonstrating that PKC412 could inhibit D816V KIT-transformed Ba/F3 cell growth with a 50% inhibitory concentration (IC50) of 30 nM to 40 nM.
|
15972446 |
2005 |
|
rs121913507
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.020 |
GeneticVariation
|
BEFREE |
Quantitative mutation analysis showed higher levels of mutant KIT D816V in SM-CMML and SM-MDS than in pure SM (P < 0.001).
|
23440662 |
2013 |
|
rs121913615
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had abnormal megakaryocytic pSTAT5 expression and a MPL W515L mutation.
|
18479730 |
2008 |
|
rs121913682
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.020 |
GeneticVariation
|
BEFREE |
We treated a patient with MCL (with an associated myelodysplastic syndrome (MDS)/myeloproliferative disorder [MPD]) based on in vitro studies demonstrating that PKC412 could inhibit D816V KIT-transformed Ba/F3 cell growth with a 50% inhibitory concentration (IC50) of 30 nM to 40 nM.
|
15972446 |
2005 |
|
rs121913682
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.020 |
GeneticVariation
|
BEFREE |
Quantitative mutation analysis showed higher levels of mutant KIT D816V in SM-CMML and SM-MDS than in pure SM (P < 0.001).
|
23440662 |
2013 |
|
rs12498609
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
TET2 rs2454206, TET2 rs12498609 and ASXL1 rs3746609 single nucleotide polymorphisms in patients with myelodysplastic syndromes.
|
30454965 |
2019 |
|
rs1265794840
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
The GSTP1-Ile105Val polymorphism is likely to influence MDS risk and prognosis.
|
19027952 |
2009 |
|
rs12917
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the screening cohort, 6 candidate SNPs were associated with the tendency to develop MDS: rs4135113 (TDG, p = 0.03), rs12917 (MGMT, p = 0.003), rs2230641 (CCNH, p = 0.01), rs2228529 and rs2228526 (ERCC6, p = 0.04 and p = 0.03), and rs1799977 (MLH1, p = 0.04).
|
30861523 |
2019 |
|
rs1353702185
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.020 |
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 |