|
rs371769427
|
|
|
0.850 |
GeneticVariation |
BEFREE |
MacroH2A1.1 mRNA levels are significantly decreased in patients with low-risk MDS presenting with chromosomal 5q deletion and myeloid cytopenias and tend to be decreased in MDS patients carrying the U2AF1 S34F mutation.
|
31439048 |
2019 |
|
rs751713049
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In this study, we characterized MDS-associated SRSF2 mutants (P95H, P95L, and P95R).
|
31040863 |
2019 |
|
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 |
|
rs371769427
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Taken together, our results demonstrate that ATR may represent a novel therapeutic target in patients with MDS carrying the U2AF1(S34F) mutation and potentially other malignancies harboring spliceosome mutations.<b>Significance:</b> This study provides preclinical evidence that patients with MDS or other myeloid malignancies driven by spliceosome mutations may benefit from ATR inhibition to exploit the R loop-associated vulnerability induced by perturbations in splicing.<i></i>.
|
30054334 |
2018 |
|
rs121913500
|
|
|
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 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The high frequency of myeloproliferative features and JAK2 p.V617F mutation, and the low frequency of p53 dysregulation, suggest that fibrosis in the context of CMML has a different pathogenesis from that previously reported in myelodysplastic syndrome.
|
29596070 |
2018 |
|
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 |
|
rs371769427
|
|
|
0.850 |
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 |
|
rs559063155
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Patient samples showed SF3B1 K700E mutations within the ptDNA of 4 patients with acute leukemia and 3 with myelodysplastic syndrome who were known to harbor this mutation.
|
28615231 |
2017 |
|
rs559063155
|
|
|
0.030 |
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 |
|
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 |