Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE With the advent of targeted therapies, such as the Janus kinase inhibitors, many patients have experienced substantial clinical benefits, including reduction in splenomegaly and symptoms and, in some instances, improvement or stabilization of bone marrow fibrosis and reduction of JAK2 V617F allele burden. 30343328

2019

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE To identify key features that may help distinguish these 2 entities, we retrospectively studied 21 cases diagnosed as "CMML" with JAK2 V617F and bone marrow fibrosis that were identified from a cohort of 610 cases of CMML diagnosed in 2006 to 2016. 30447300

2019

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE A JAK2 variant in addition to JAK2 V617F (n = 13) in myelofibrosis was associated with an increased cumulative risk of transformation into AML (P = .003). 30811597

2019

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE The median age was 57years (range, 38 to 72); 75% had primary MF and 25% had secondary MF.JAK2 V617F was mutated in 61%. 30408564

2019

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 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

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE JAK2 V617F mutation in plasma cell-free DNA preceding clinically overt myelofibrosis: Implications for early diagnosis. 29565699

2018

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE Overall response rates (ORRs) in patients with JAK2 V617F-mutated PV, ET, and MF were 95%, 90.5%, and 9.1%, respectively, while patients with ET and MF without the JAK2 V617F mutations had ORRs of 43.7% and 0%, respectively. 30025280

2018

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE Since the discovery of the activating V617F mutation in Janus kinase 2 (JAK2), a number of pharmacologic inhibitors of JAK2 have entered clinical trials for patients with myelofibrosis. 28441920

2017

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE Collectively, our studies demonstrate that occasional patients with CALR mutation-positive ET or MF carry other MPN-initiating genetic mutations (including JAK2 V617F), acquire "secondary mutations" before or after the CALR mutation, or evolve over time to being CALR mutation-homozygous. 28168700

2017

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 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

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, leukocyte counts, hemoglobin, and hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F-positive essential thrombocythemia. 25934766

2015

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a characteristic feature of the classical myeloproliferative neoplasms (MPNs) polycythemia vera, essential thrombocythemia, and myelofibrosis, and it is thought to be responsible for the constitutional symptoms associated with these diseases. 25912019

2015

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013. 25870379

2015

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 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

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE The effect of long-term ruxolitinib treatment on JAK2p.V617F allele burden in patients with myelofibrosis. 26228487

2015

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE We investigated this question using conditional JAK2(V617F) knock-in mice with constitutive and inducible expression of JAK2(V617F) in hematopoietic cells, which develop a polycythemia vera (PV)-like disorder evolving into myelofibrosis. 24951423

2014

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE The discovery of the activating JAK2 V617F mutation in patients with myelofibrosis (MF) led to the development of JAK2 inhibitors. 24856675

2014

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE JAK2 V617F mutations were detected in 6 of the 28 patients with bone marrow fibrosis presenting at the time of diagnosis and 2 of the 7 patients with bone marrow fibrosis developing in the course of disease, significantly higher than the control group patients. 24186132

2014

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 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

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE There was a trend toward a more frequent evolution to myelofibrosis when the JAK2(V617F) mutated allele burden was >50% (p=0.09), but not to AML. 22818858

2013

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE Here, we show that treatment with the dual phosphoinositide-3-kinase (PI3K)/AKT and mTOR inhibitor BEZ235 attenuated PI3K/AKT and mTOR signaling, as well as induced cell-cycle growth arrest and apoptosis of the cultured human JAK2-V617F-expressing HEL92.1.7 (HEL), UKE1 cells, and primary CD34+ myelofibrosis (MF)-MPN cells. 23445613

2013

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE However, JAK2 inhibitors have limited ability to reduce JAK2 V617F allele burden or bone marrow fibrosis in humans. 23313046

2013

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE The chronic myeloproliferative neoplasms (MPNs), are characterized by a Janus Kinase (JAK)-2 V617F point mutation but this molecular abnormality does not explain by itself the pathogenesis of these disorders, or the phenotypic diversity associated with essential thrombocythemia, polycythemia vera (PV), and myelofibrosis. 24290217

2013

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 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

dbSNP: rs77375493
rs77375493
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 GeneticVariation BEFREE Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. 23057517

2013