rs10974944
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.810 |
GeneticVariation |
BEFREE |
The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms.
|
20422415 |
2010 |
rs10974944
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.810 |
GeneticVariation |
GWASDB |
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
|
19287384 |
2009 |
rs10974944
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.810 |
GeneticVariation |
GWASCAT |
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
|
19287384 |
2009 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Calreticulin (CALR) gene mutations are currently recommended as biomarkers in diagnosis of patients with myeloproliferative neoplasms (MPN) with Jak2 V617F negative phenotype.
|
31248375 |
2019 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The V617F mutation in the JH2 domain of JAK2 is an oncogenic driver in several myeloproliferative neoplasms (MPNs), including essential thrombocythemia, myelofibrosis, and polycythemia vera (PV).
|
31697804 |
2019 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The majority of patients with Philadelphia-negative myeloproliferative neoplasms (MPNs) harbor a gain of function mutation V617F in Janus kinase (JAK) 2.
|
31227936 |
2019 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The mutant JAK2 V617F is the most common molecular event associated with myeloproliferative neoplasms.
|
30707971 |
2019 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
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 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Furthermore, the V617F mutation in JAK2 was identified in patients affected by myeloproliferative neoplasms.
|
29589523 |
2019 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Tyrosine-phosphorylated SOCS3 negatively regulates cellular transformation mediated by the myeloproliferative neoplasm-associated JAK2 V617F mutant.
|
31255914 |
2019 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Myeloproliferative neoplasms are present in 35%-50% of European patients and are usually associated with the JAK2-V617F mutation.
|
30828850 |
2019 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Influence of Blood Count, Cardiovascular Risks, Inherited Thrombophilia, and JAK2 V617F Burden Allele on Type of Thrombosis in Patients With Philadelphia Chromosome Negative Myeloproliferative Neoplasms.
|
30301673 |
2019 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation is highly recurrent in many of the myeloproliferative neoplasms, a molecular variant that can be easily detected using sensitive and minimally invasive techniques.
|
30514740 |
2019 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Angiogenesis in JAK2 V617F positive myeloproliferative neoplasms and ruxolitinib decrease VEGF, HIF-1 enesis in JAK2 V617F positive cells.
|
28554272 |
2018 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2 V617F mutation is highly prevalent in patients with myeloproliferative neoplasms (MPN).
|
29717448 |
2018 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
V617F driver mutation of JAK2 is the leading cause of the Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs).
|
29202466 |
2018 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) are associated with increases in janus kinase 2 (JAK2) signaling, often resulting from the JAK2 V617F mutation.
|
30025280 |
2018 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Myeloproliferative neoplasms are present in 40% of patients and are usually associated with the V617F-JAK2 mutation in myeloid cells, in particular peripheral blood granulocytes.
|
28685257 |
2018 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Clinical Implications of Quantitative JAK2 V617F Analysis using Droplet Digital PCR in Myeloproliferative Neoplasms.
|
29214759 |
2018 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Renovascular hypertension associated with JAK2 V617F positive myeloproliferative neoplasms treated with angioplasty: 2 cases and literature review.
|
29656438 |
2018 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Philadelphia-negative myeloproliferative neoplasms (MPNs) are a diverse group of diseases whose common feature is the presence of V617F mutation of the JAK2 gene.
|
30056580 |
2018 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
JAK2 V617F-positive acute myeloid leukaemia (AML): a comparison between de novo AML and secondary AML transformed from an underlying myeloproliferative neoplasm. A study from the Bone Marrow Pathology Group.
|
29767839 |
2018 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Our data, reflecting the largest reported study comprehensively detailing clinicopathologic features and response to therapy, show that the co-occurrence of BCR-ABL1 and JAK2 V617F is rare, with an estimated frequency of 0.4%, and most often reflects two distinct ('composite') myeloproliferative neoplasms.
|
29327708 |
2018 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Detection of the JAK2 V617F mutation is a key step in the diagnosis of myeloproliferative neoplasms (MPN).
|
29150911 |
2018 |
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The activated JAK2-V617F mutant is very frequently found in myeloproliferative neoplasms (MPNs), and its inhibitor ruxolitinib has been in clinical use, albeit with limited efficacies.
|
29928488 |
2018 |