|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
JAK2 V617F mutations clustered in AML samples with an aberrant karyotype (p<0.05).
|
17229652 |
2007 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Janus kinase2 V617F</span> was present in 13/162 AML samples (8%): 10/13 transformed MPD, and three apparent de novo AML (one of 12 AML-M6, one of 24 AML-M7, and one AML-M2 - all mixed clonality).
|
16598306 |
2006 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
JAK2(V617F) was identified in patients previously diagnosed with a myeloproliferative disorder or acute myeloid leukemia transformed from myeloproliferative disorder, whereas a wild-type genotype was identified in patients with reactive conditions or de novo acute myeloid leukemia.
|
16831057 |
2006 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders.
|
16247455 |
2006 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders.
|
16247455 |
2006 |
|
rs77375493
|
|
|
0.900 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We screened 79 acute myeloid leukemia (AML) cell lines and found five positive for JAK2 V617F (HEL, MB-02, MUTZ-8, SET-2, UKE-1), 4/5 with histories of MPD/MDS.
|
16408098 |
2006 |
|
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
V617F was not identified in patients with systemic mastocytosis (n = 28), chronic or acute myeloid leukemia (n = 35), secondary erythrocytosis (n = 4), or healthy controls (n = 160).
|
15920007 |
2005 |
|
rs77375493
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121912472
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Thus our studies provide clues in understanding the leukemogenesis of JAK2 K607N mutation in AML.
|
30521925 |
2019 |
|
rs121912472
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Acute myeloblastic leukaemias in adult patients: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up.
|
23970018 |
2013 |
|
rs121912472
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology.
|
22138009 |
2011 |
|
rs121912472
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
The JAK2 V617F mutation in de novo acute myelogenous leukemias.
|
16247455 |
2006 |
|
rs121912472
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
|
rs147001633
|
|
|
0.800 |
GeneticVariation |
BEFREE |
DNMT3A R882H, a frequent mutation in acute myeloid leukemia (AML), plays a critical role in malignant hematopoiesis.
|
31703632 |
2019 |
|
rs147001633
|
|
|
0.800 |
GeneticVariation |
BEFREE |
R882H specific DNA hypermethylation events in AML patients were accompanied by R882H specific mis-regulation of several genes with strong cancer connection, which are potential downstream targets of R882H.
|
31620784 |
2019 |
|
rs147001633
|
|
|
0.800 |
GeneticVariation |
BEFREE |
DNMT3A R882H occurs frequently in various cancers, including acute myeloid leukemia, and our results suggest that the effects of R882H and other <i>DNMT3A</i> mutations may go beyond changes in DNMT3A methylation activity.
|
31640986 |
2019 |
|
rs147001633
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The DNMT3A R882H mutation is frequently observed in acute myeloid leukemia (AML).
|
29518238 |
2018 |
|
rs147001633
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The DNA methyltransferase DNMT3A R882H mutation is observed in 25% of all AML patients.
|
30185810 |
2018 |
|
rs147001633
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The importance of the tetramer structure and cooperative mechanism is emphasized by the observation that the R882H mutation in the dimer interface of DNMT3A is highly prevalent in acute myeloid leukemia and leads to a substantial loss of its activity.
|
27768276 |
2018 |
|
rs147001633
|
|
|
0.800 |
GeneticVariation |
BEFREE |
This report represents the first documentation of the same variant (DNMT3A p.Arg882His) as both the constitutional mutation associated with TBRS and the somatic mutation hotspot of AML.
|
27991732 |
2017 |
|
rs147001633
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our results provided novel insight into the role of the DNMT3A R882H mutation in AML pathogenesis and suggested that targeting the cellular GSH synthetic pathway could enhance the current therapy for AML patients with the DNMT3A R882H mutation.
|
28418922 |
2017 |
|
rs147001633
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To explore the features of human AML with the hotspot <i>DNMT3A</i> R882H mutation, we generated Dnmt3a R878H conditional knockin mice, which developed AML with enlarged Lin<sup>-</sup>Sca1<sup>+</sup>cKit<sup>+</sup> cell compartments.
|
28461508 |
2017 |
|
rs147001633
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs147001633
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |