|
rs371769427
|
|
|
0.850 |
GeneticVariation |
BEFREE |
MDS and acute myeloid leukemia patient samples harboring U2AF35(S34F) have a similar increased use of the ATG7 distal CP site, and previous studies have shown that mice with hematopoietic cells lacking Atg7 develop an MDS-like syndrome.
|
27184077 |
2016 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs371769427
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs387906631
|
|
|
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
|
|
|
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 |
|
rs387906631
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
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 |
|
rs121913502
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In the current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C).
|
22033490 |
2012 |
|
rs121913502
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Intriguingly, the IDH2 mutation p.R140Q and novel IDH1 mutation p.I99M co-occurred in a 75-year-old patient with AML developed from myelodysplastic syndromes (MDS).
|
20946881 |
2010 |
|
rs121913499
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In the current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C).
|
22033490 |
2012 |
|
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 |
|
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 |
UNIPROT |
Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes.
|
22158538 |
2011 |
|
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 |
|
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 |
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 |
|
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 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Because detailed clinical and hematological characteristics of CBL-mutated cases is lacking, we screened 156 BCR-ABL and JAK2 V617F negative patients with myeloproliferative neoplasms (MPN) and overlap syndromes between myelodysplastic syndrome (MDS) and MPN (MPS/MPN) for mutations in exons 8 and 9 of CBL by denaturing high-performance liquid chromatography and direct sequencing.
|
23010802 |
2012 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We selected the six patients with myelodysplastic syndromes</span> or AML because they carried acquired rearrangements on chromosome 4q24; we selected the five patients with myeloproliferative disorders because they carried a dominant clone in hematopoietic progenitor cells that was positive for the V617F mutation in the Janus kinase 2 (JAK2) gene.
|
19474426 |
2009 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In typical forms of MDS (n = 89) JAK2 V617F mutation was very rare (n = 2).
|
16741247 |
2006 |