|
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 |
|
rs12498609
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TET2 rs2454206, TET2 rs12498609 and ASXL1 rs3746609 single nucleotide polymorphisms in patients with myelodysplastic syndromes.
|
30454965 |
2019 |
|
rs12917
|
|
|
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 |
|
rs138817062
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although HIPK2 mutations (R861W and N951I) were found in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) patients, little is known about the underlying mechanisms by which HIPK2 mutations are associated with the pathogenesis of leukemia.
|
30755814 |
2019 |
|
rs1799977
|
|
|
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
|
|
|
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 |
|
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 |
|
rs2454206
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We concluded that People with TET rs2454206 G/A genotype, TET2rs12498609 G/C genotype or ASXL1rs3746609 A/G genotype were related to lower prevalence of MDS.
|
30454965 |
2019 |
|
rs3746609
|
|
|
0.010 |
GeneticVariation |
BEFREE |
TET2 rs2454206, TET2 rs12498609 and ASXL1 rs3746609 single nucleotide polymorphisms in patients with myelodysplastic syndromes.
|
30454965 |
2019 |
|
rs387907272
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Allele-specific oligonucleotide-polymerase chain reaction was used for the detection of the MYD88 L265P variant, next-generation sequencing was applied to analyze NLRP3 and 28 genes associated with myelodysplastic syndrome, and gene scanning was performed for the detection of X chromosome inactivation.
|
31268627 |
2019 |
|
rs4135113
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs1800975
|
|
|
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 |
|
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 |
|
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 |
|
rs16944
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, our present data shows that the IL-1β polymorphisms (rs16944) GG were frequently occurred in MDS.
|
27693669 |
2016 |
|
rs1805388
|
|
|
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 |