|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These standards were used in two JAK2 p.V617F assays, which were used to support clinical studies of ruxolitinib (Jakafi(®)) in myelofibrosis, a real-time polymerase chain reaction assay for initial screening of all samples, and a novel single-nucleotide polymorphism typing (SNaPshot)-based assay for samples with less than 5% mutant allele burden.
|
23537216 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The effect of long-term ruxolitinib treatment on JAK2p.V617F allele burden in patients with myelofibrosis.
|
26228487 |
2015 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 mutated allele(s), we identified V617F in 38 Ph-MPD, which include 13 polycythemia vera (PV), 23 essential thrombocythemia (ET) and 2 chronic idiopatic myelofibrosis.
|
18612778 |
2008 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The activating mutation JAK2 V617F plays a central role in the pathogenesis of polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
|
20160166 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We detected the JAK2 V617F mutation in B and NK cells in approximately half the patients with IMF and a minority of those with PV.
|
16954506 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The number of CD63(+) basophils was higher in patients with polycythemia vera than in healthy subjects or patients with essential thrombocythemia or primary myelofibrosis and was correlated with the V617F burden.
|
19608683 |
2009 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV, 70 per cent in ET and 52 per cent of IMF.
|
20966521 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The most prevalent mutation identified is a gain-of-function mutation in the Janus kinase (JAK) family, JAK2 V617F, which has been identified in more than half of patients with myelofibrosis.
|
23307549 |
2013 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Higher JAK2(V617F) allele burden correlated with more advanced myelofibrosis, greater splenomegaly, and higher white blood cell count, but not with age, gender, hematocrit level, or frequency of phlebotomy prior to cytoreductive therapy.
|
20650526 |
2011 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The V617F mutation in the JAK2 gene on chromosome 9p24.1 was identified recently in peripheral blood leukocytes in the majority of patients with PV and in approximately half of patients with essential thrombocythemia and idiopathic myelofibrosis.
|
17213018 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic leukemia (CMML).
|
16537803 |
2006 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
88% (46/52) of the patients with PV, 47% (39/81) with ET, and 77% (8/11) with PMF were positive for JAK2 V617F, while more than 35% of the individuals were JAK2 V617F-negative, confirming a high prevalence of this abnormality in MPNs, more frequently with a low mutated allele burden, similar to what has been reported in other Western countries, despite differences among methods used to detect this mutation.
|
22304488 |
2012 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Around 50% of patients with myelofibrosis have the JAK2(V617F) mutation, but almost all patients have aberrant activation of the JAK-STAT signalling pathway.
|
26648193 |
2015 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2(V617F), a mutant of tyrosine kinase JAK2, is found in most patients with polycythemia vera (PV) and a substantial proportion of patients with idiopathic myelofibrosis or essential thrombocythemia.
|
17178722 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The advances in molecular insights, especially the discovery of the Janus kinase 2 (JAK2) V617F mutation and its role in JAK-STAT pathway dysregulation, led to the development of the JAK inhibitor ruxolitinib, which currently represents the cornerstone of medical therapy in MF and hydroxyurea-resistant/intolerant PV.
|
31228096 |
2019 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the presence and the mutational status of JAK2(V617F) mutation.
|
16990584 |
2007 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
This study is the largest hitherto carried out in this setting and shows that the rate of major CV events in PMF is comparable with that reported in essential thrombocythemia, and it is increased in aged patients and those with JAK2 V617F mutation and leukocytosis.
|
19965680 |
2010 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The discovery of the JAK2 V617F mutation in the majority of MF patients has been followed by significant progress in drug development for MF.
|
28395559 |
2017 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F-positive ET/PV and CIMF should be distinguished from wild-type JAK2 ET, rare cases of PV, and CIMF, and should be evaluated during life-long follow-up.
|
16810614 |
2006 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The discovery of the activating JAK2 V617F mutation in patients with myelofibrosis (MF) led to the development of JAK2 inhibitors.
|
24856675 |
2014 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF.
|
24957246 |
2014 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Overall, the incidence of the JAK2 V617F mutation was 87% in PV, 67% in ET, and 66% in CIM.
|
16949922 |
2006 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F was detected in 89 (61%) patients with ET, 103 (86%) with PV, four (33%) with myelofibrosis, and four (80%) with MPNu.
|
19277418 |
2009 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele burden in Essential Thrombocythemia and Myelofibrosis.
|
22300941 |
2012 |
|
rs77375493
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To evaluate whether risk scores used to classify patients with primary myelofibrosis and JAK-2 V617F mutation status can predict clinical outcome.
|
23644853 |
2013 |