Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence. 31697803

2020

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE We conclude that besides morphology of megakaryocytes and other features, JAK2 V617F allelic burden can help differentiate CMML from PMF with monocytosis. 30447300

2019

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Notably, mutations in chromatin regulators ASXL1 and/or EZH2 were identified as the first genetic lesions, preceding both JAK2-V617F and CALR mutations, and are thus drivers of clonal myelopoiesis in a PMF subset. 29907810

2019

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE An integral part of laboratory tests carried out in this disease group is detecting the presence of mutations in the Janus kinase 2 gene at position 617 (JAK2 V617F) and in the gene encoding for the receptor for thrombopoietin (myeloproliferative leukemia virus oncogene, MPL) found in approximately 60% of PMF patients. 29534592

2019

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
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

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE When comparing patients with and without venous thrombosis, cutoff value of V617F burden allele > 90.4% was significant for PV patients with thrombosis (P = .036), as was > 56.7% for PMF patients with thrombosis (P = .046). 30301673

2019

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The Janus kinase 2 (<i>JAK2</i>) V617F mutation is common in patients with breakpoint cluster region-Abelson1 (<i>BCR-ABL1</i>)-negative myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in <i>BCR-ABL1-</i>positive chronic myeloid leukemia (CML) patients. 31123683

2019

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The prevalence of JAK2 V617F mutations is higher than 95% in PV, 50%-75% in ET and 40%-75% in PMF. 30502850

2018

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE A thorough investigation resulted in a final diagnosis of primary myelofibrosis associated with the V617F mutation in the JAK2 gene. 29368941

2018

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Therefore, the patient was determined to have ECD with a typical BRAF V600E mutation, as well as primary myelofibrosis, with the latter diagnosis manifesting clinically over one year after the JAK2 V617F was first detected in ctDNA. 29565699

2018

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE A point mutation in exon 14 of the JAK2 gene resulting in the formation of the JAK2 V617F transcript occurs in 95% of PV patients and around 50% of ET and PMF patients driving constitutive activation of the JAK/STAT pathway. 30558676

2018

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Furthermore, EndMT is an early event in a JAK2-V617F knock-in mouse model of primary myelofibrosis. 28728747

2017

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
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

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The identification of CALR mutations in essential thrombocythemia (ET) and primary myelofibrosis that are mutually exclusive with the JAK2 V617F mutation has stirred an intensive research interest about the molecular functions of CALR and its mutants in myeloproliferative neoplasms (MPNs) and its diagnostic/prognostic value. 28589084

2017

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Somatic mutations in an endoplasmic reticulum chaperone, named calreticulin (CALR), is the second most common mutation in patients with ET and PMF after JAK2 V617F mutation. 26697989

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Increased LGALS3 expression was associated with a negative JAK2 V617F status mutation in leucocytes from PMF but not in patients with ET without this mutation. 27402956

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The Ph negative MPN (PV, ET and PMF) are characterized by the mutation JAK2(V617F) of the JAK2 protein in the auto-inhibitory JH2 domain, which is found in most PV patients and in approximately half of ET and PMF patients. 27282563

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The TERT rs2736100 A>C SNP strongly correlated to all MPN, regardless of the phenotype (PV, ET or PMF) and major molecular subtype (JAK2 V617F- or CALR-positive). 27061303

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE These studies offer novel insights into the mechanism of JAK/STAT activation in patients with JAK2-V617F-negative essential thrombocytosis and primary myelofibrosis. 26573090

2016