|
rs1353702185
|
|
|
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 |
|
rs371769427
|
|
A |
0.850 |
GeneticVariation |
CLINVAR |
Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression.
|
23861105 |
2013 |
|
rs267607040
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
SETBP1 mutation analysis in 944 patients with MDS and AML.
|
23648668 |
2013 |
|
rs267607040
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.
|
23889083 |
2013 |
|
rs267607042
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
SETBP1 mutation analysis in 944 patients with MDS and AML.
|
23648668 |
2013 |
|
rs267607042
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.
|
23889083 |
2013 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently published studies report a small percentage of patients with RARS-T. Sixty percent of these have JAK2 V617F mutation, which can suggest the coexistence of two pathological conditions (MDS and MPN).
|
24399021 |
2013 |
|
rs121913507
|
|
|
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 |
|
rs121913682
|
|
|
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 |
|
rs751689316
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Stepwise transduction of D171N followed by BMI1 in human CD34(+) cells resulted in long-term proliferation with a retained CD34(+) cell fraction, which is quite similar to the phenotype in patients with higher-risk MDSs.
|
23471304 |
2013 |
|
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 |
|
rs2072671
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The effect of CDA SNP A79C and gender on CDA expression, enzyme activity, and drug pharmacokinetics/pharmacodynamics was examined in mice and humans, and the impact on overall survival (OS) was evaluated in 5-azacytidine/decitabine-treated patients with MDS (n = 90) and cytarabine-treated patients with acute myeloid leukemia (AML) (n = 76).
|
23287564 |
2013 |
|
rs587779821
|
|
|
0.010 |
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 |
|
rs2308321
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two non-synonymous SNPs present in the methylguanine methyltransferase (MGMT) gene, in complete linkage disequilibrium, were significantly associated with t-MDS: rs2308321 and rs2308327, with a raw p value of 7.4 × 10(-5) and a corrected p value after Benjamini-Hochberg correction of 0.014.
|
24238921 |
2014 |
|
rs2308327
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two non-synonymous SNPs present in the methylguanine methyltransferase (MGMT) gene, in complete linkage disequilibrium, were significantly associated with t-MDS: rs2308321 and rs2308327, with a raw p value of 7.4 × 10(-5) and a corrected p value after Benjamini-Hochberg correction of 0.014.
|
24238921 |
2014 |
|
rs4553808
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We tested the hypothesis that SNP rs4553808 is associated with RFS, OS, nonrelapse mortality (NRM) and the cumulative incidence of acute graft-versus-host disease (GVHD) and chronic GVHD in adults with acute myeloid leukemia and advanced myelodysplastic syndrome undergoing a first 8/8 or 7/8 HLA-matched unrelated donor HSCT.
|
24631737 |
2014 |
|
rs893810317
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, we conducted whole-genome sequencing on a patient with a germline GATA-2 heterozygous mutation (c. 988 C > T; p. R330X), who had a history suggestive of immunodeficiency and evolved into MDS/AML.
|
24782121 |
2014 |
|
rs371769427
|
|
|
0.850 |
GeneticVariation |
BEFREE |
These data suggest that the S34F mutation alters U2AF1 function in the context of specific RNA sequences, leading to aberrant alternative splicing of target genes, some of which may be relevant for MDS pathogenesis.
|
25311244 |
2015 |
|
rs371246226
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo myelodysplastic syndrome (MDS).
|
25311244 |
2015 |
|
rs371246226
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo myelodysplastic syndrome (MDS).
|
25311244 |
2015 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Herein, we describe the clinical, morphologic, immunophenotypic, cytogenetic, and molecular genetic findings in two MDS/AML cases that contained both MYC rearrangement and the JAK2 V617F mutation.
|
26382622 |
2015 |
|
rs1800562
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The H63D variant was observed in 35% and the C282Y variant as heterozygous in 5% of patients with MDS with IOL.
|
25841232 |
2015 |
|
rs1799945
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The H63D variant was observed in 35% and the C282Y variant as heterozygous in 5% of patients with MDS with IOL.
|
25841232 |
2015 |
|
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 |