|
rs1800562
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs927698341
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6.
|
20878158 |
2011 |
|
rs3745274
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6.
|
20878158 |
2011 |
|
rs1470755915
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6.
|
20878158 |
2011 |
|
rs371769427
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs387906717
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
A recently identified WASp(I294T) mutation was shown to render WASp constitutively active in vivo, causing increased filamentous (F)-actin polymerization, high podosome turnover in macrophages, and myelodysplasia.
|
20354175 |
2010 |
|
rs762622506
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs121913500
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs118101777
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs387907272
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs138817062
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs77375493
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs1695
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs1800562
|
|
MYELODYSPLASTIC SYNDROME
|
|
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
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs559063155
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs866082104
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs781517199
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs387906631
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs77375493
|
|
MYELODYSPLASTIC SYNDROME
|
|
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 |
|
rs16944
|
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation
|
BEFREE |
In conclusion, our present data shows that the IL-1β polymorphisms (rs16944) GG were frequently occurred in MDS.
|
27693669 |
2016 |