rs371769427
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
|
|
|
rs387906631
|
|
A |
0.820 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs193303018
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs752746786
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs781517199
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, point mutations of the AML1 gene, V105ter (single-letter amino acid code) and R139G, (single-letter amino acid codes) were identified in 2 cases of myelodysplastic syndrome (MDS) by means of the reverse transcriptase-polymerase chain reaction single-strand conformation polymorphism method.
|
11049997 |
2000 |
rs72661120
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a novel G to C transversion resulting in a change from Ala to Gly at codon 507 of CHK2 in one MDS sample, but normal cells from this individual did not have the abnormality.
|
11248330 |
2001 |
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 |
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 |
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 |
rs121913488
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One patient had FLT3/TKD mutation (D835Y) at both MDS and AML stages.
|
14737077 |
2004 |
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 |
rs121913507
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We treated a patient with MCL (with an associated myelodysplastic syndrome (MDS)/myeloproliferative disorder [MPD]) based on in vitro studies demonstrating that PKC412 could inhibit D816V KIT-transformed Ba/F3 cell growth with a 50% inhibitory concentration (IC50) of 30 nM to 40 nM.
|
15972446 |
2005 |
rs121913682
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We treated a patient with MCL (with an associated myelodysplastic syndrome (MDS)/myeloproliferative disorder [MPD]) based on in vitro studies demonstrating that PKC412 could inhibit D816V KIT-transformed Ba/F3 cell growth with a 50% inhibitory concentration (IC50) of 30 nM to 40 nM.
|
15972446 |
2005 |
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 |
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 |
rs1799945
|
|
|
0.040 |
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 |
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 |
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 |
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 |
rs1695
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Genetic polymorphism of GSTM1, GSTT1 and GSTP1 Ile105Val was investigated in a case-control study in a Hungarian patient population comprising 86 patients with myelodysplastic syndrome and 99 hospital-based controls.
|
18493876 |
2008 |
rs751689316
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Interestingly, among integration sites identified, Evi1 seemed to collaborate with an AML1 mutant harboring a point mutation in the Runt homology domain (D171N) to induce MDS/AML with an identical phenotype characterized by marked hepatosplenomegaly, myeloid dysplasia, leukocytosis, and biphenotypic surface markers.
|
18192504 |
2008 |
rs121913615
|
|
|
0.010 |
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 |