|
rs893810317
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, we conducted whole-genome sequencing on a patient with a germline GATA-2 heterozygous mutation (c. 988 C > T; p. R330X), who had a history suggestive of immunodeficiency and evolved into MDS/AML.
|
24782121 |
2014 |
|
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 |
|
rs387906631
|
|
A |
0.820 |
SusceptibilityMutation |
CLINVAR |
|
|
|
|
rs752746786
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
|
rs1695
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The GSTP1-Ile105Val polymorphism is likely to influence MDS risk and prognosis.
|
19027952 |
2009 |
|
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 |
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 |
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 |
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 results suggest that H63D mutations may not have clinical significance in Chinese patients with MDS and AA.
|
20563578 |
2010 |
|
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 |
|
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 |
|
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 |
|
rs104894229
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs104894229
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs104894230
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
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 |
|
rs121913499
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs121913499
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs121913499
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
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 |