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 |
rs866082104
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
TET2 rs2454206, TET2 rs12498609 and ASXL1 rs3746609 single nucleotide polymorphisms in patients with myelodysplastic syndromes.
|
30454965 |
2019 |
rs587779821
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
rs228593
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
rs762622506
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
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 |
rs2230641
|
|
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 |
rs2072671
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6.
|
20878158 |
2011 |
rs869312828
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
rs1617640
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
These findings suggest a strong association between the rs1617640 G/G genotype and MDS.
|
21078205 |
2010 |
rs755174338
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
rs1799793
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
rs1265794840
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
The GSTP1-Ile105Val polymorphism is likely to influence MDS risk and prognosis.
|
19027952 |
2009 |
rs1800067
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
rs2228529
|
|
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 |
rs2228526
|
|
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 |
rs121913488
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
One patient had FLT3/TKD mutation (D835Y) at both MDS and AML stages.
|
14737077 |
2004 |
rs893810317
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
rs387906631
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.820 |
GeneticVariation
|
BEFREE |
Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus.
|
22147895 |
2012 |
rs387906631
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.820 |
GeneticVariation
|
BEFREE |
We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family.
|
21892162 |
2011 |