|
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 |
|
rs193303018
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs752746786
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
Herein, we describe the clinical, morphologic, immunophenotypic, cytogenetic, and molecular genetic findings in two MDS/AML cases that contained both MYC rearrangement and the JAK2 V617F mutation.
|
26382622 |
2015 |
|
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 |
To determine if JAK2 V617F mutation is implicated in the abnormal thrombopoiesis of the 3q21q26 syndrome, we analyzed bone marrow samples of 12 patients, including 10 patients with acute myeloid leukemia and 2 patients with a myelodysplastic syndrome, associated with either inv(3)(q21;q26) or t(3;3)(q21;q26).
|
20153505 |
2010 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
JAK2(V617F) mutation in myelodysplastic syndrome (MDS) with del(5q) arises in genetically discordant clones.
|
19819015 |
2010 |
|
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 |
The JAK2-V617F mutation could be detected in 28 of 33 polycythaemia vera patients (85%), 29 of 49 essential thrombocythaemia patients (59%) and 2 of 6 IMF patients (33%), but was not detected in 11 patients with myelodysplastic syndrome or another 10 with other haematological diseases.
|
18336541 |
2008 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had abnormal megakaryocytic pSTAT5 expression and a MPL W515L mutation.
|
18479730 |
2008 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD), including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML).
|
18030353 |
2007 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In typical forms of MDS (n = 89) JAK2 V617F mutation was very rare (n = 2).
|
16741247 |
2006 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were not acquired, and only 1 (6%) of 17 evaluable cases showed cytogenetic progression.
|
17050076 |
2006 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The V617F mutation is present in blood and marrow from a large proportion of patients with classic BCR/ABL-negative chronic myeloproliferative disorders and of a few patients with other clonal hematological diseases such as myelodysplastic syndrome, atypical myeloproliferative disorders, and acute myeloid leukemia.
|
16931578 |
2006 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation.
|
15860661 |
2005 |
|
rs1800562
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The H63D variant was observed in 35% and the C282Y variant as heterozygous in 5% of patients with MDS with IOL.
|
25841232 |
2015 |
|
rs1800562
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Increased prevalence of HFE gene mutations is not a generalized feature of MDS, but some subgroups of MDS, especially those characterized by excessive accumulation of ringed sideroblasts, exhibit C282Y mutations at a higher frequency than in other forms of MDS and healthy controls.
|
17654685 |
2007 |
|
rs1800562
|
|
|
0.050 |
GeneticVariation |
BEFREE |
49 patients with MM were compared to 61 patients with myelodysplastic syndrome (MDS) concerning the incidence of two genetic variants of the HFE gene (C282Y and H63D) identified with PCR-RFLP.
|
17001480 |
2006 |
|
rs1800562
|
|
|
0.050 |
GeneticVariation |
BEFREE |
With C282Y, increased OR occurred in non-Hodgkin lymphoma, myeloproliferative disorders, and adenocarcinoma of prostate (2.0, 2.8, and 3.4, respectively); OR was decreased in myelodysplasia (0.4).
|
15018631 |
2004 |
|
rs1800562
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations when compared to healthy blood donors reflecting the average population.
|
12624489 |
2003 |
|
rs1799945
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The H63D variant was observed in 35% and the C282Y variant as heterozygous in 5% of patients with MDS with IOL.
|
25841232 |
2015 |