|
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 |
|
rs866082104
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts.
|
27604819 |
2017 |
|
rs3746609
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TET2 rs2454206, TET2 rs12498609 and ASXL1 rs3746609 single nucleotide polymorphisms in patients with myelodysplastic syndromes.
|
30454965 |
2019 |
|
rs228593
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that the rs228593, rs2267437 and rs1805388 functional polymorphisms probably alter the level of expression of the ATM, XRCC6 and LIG4 genes, respectively, being important in the maintenance of genomic instability in MDS.
|
27497341 |
2016 |
|
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 |
|
rs762622506
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A search for the second hit which led to the development of MDS and later AML in this individual revealed the PHF6 gene variant (exon9:c.872G > A:p.G291E; NM_001015877), BCORL1 (exon3:c.1111A > C:p.T371P; NM_001184772) and BCOR gene variant (exon4:c.2076dupT:p.P693fs; NM_001123383), which appear to be very likely second hits participating in the progression to myeloid malignancy.
|
30083851 |
2018 |
|
rs867679539
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A search for the second hit which led to the development of MDS and later AML in this individual revealed the PHF6 gene variant (exon9:c.872G > A:p.G291E; NM_001015877), BCORL1 (exon3:c.1111A > C:p.T371P; NM_001184772) and BCOR gene variant (exon4:c.2076dupT:p.P693fs; NM_001123383), which appear to be very likely second hits participating in the progression to myeloid malignancy.
|
30083851 |
2018 |
|
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 |
|
rs2230641
|
|
|
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 |
|
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 |
|
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 |
|
rs3745274
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6.
|
20878158 |
2011 |
|
rs869312828
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R525H mutation in DDX41 is thought to play important roles in the development of hereditary myelodysplastic syndrome and acute myelocytic leukemia.
|
28426938 |
2017 |
|
rs1408538785
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R525H mutation in DDX41 is thought to play important roles in the development of hereditary myelodysplastic syndrome and acute myelocytic leukemia.
|
28426938 |
2017 |
|
rs147001633
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs147001633
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs377577594
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs1617640
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings suggest a strong association between the rs1617640 G/G genotype and MDS.
|
21078205 |
2010 |
|
rs1265794840
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The GSTP1-Ile105Val polymorphism is likely to influence MDS risk and prognosis.
|
19027952 |
2009 |
|
rs1799793
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To the rs1799793 polymorphism, we found that the GG homozygous wild-type genotype was associated with a decreased chance of developing MDS.
|
28472728 |
2017 |
|
rs755174338
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study suggests that XRCC1 (Arg280His) and XPD polymorphisms are associated with risk of MDS and XRCC1 polymorphism strongly associated with advanced MDS subgroup.
|
26482462 |
2016 |
|
rs1800067
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported.
|
28472728 |
2017 |
|
rs2228526
|
|
|
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 |
|
rs2228529
|
|
|
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 |
|
rs121913488
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One patient had FLT3/TKD mutation (D835Y) at both MDS and AML stages.
|
14737077 |
2004 |