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rs77375493
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
The expanding scope of creative impact is perhaps most startling-from NCI-funded built environments to AACR Team Science Awarded studies of Asian cancer genomes informing global primary prevention policies; cell-free epigenetic marks identifying incipient neoplastic site; practice-changing genomic subclasses in myeloproliferative neoplasia (including germline variant tightly linked to JAK2 V617F haplotype); universal germline genetic testing for pancreatic cancer; and repurposing drugs targeting immune- and stem-cell signals (e.g., IL-1β, PD-1, RANK-L) to cancer interception.
|
30530635 |
2018 |
|
rs77375493
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
The V617F mutation in the JAK2 non-receptor tyrosine kinase (JAK2V617F) is present as an early somatic event in most patients with myeloproliferative neoplasms (MPNs), and the study of these chronic myeloid malignancies provides an experimentally tractable approach to understanding early tumorigenesis.
|
25288776 |
2014 |
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rs77375493
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, in the general population the JAK2 V617F somatic mutation has a high diagnostic value for myeloproliferative cancer when combined with conventional haematological parameters.
|
23116358 |
2013 |
|
rs77375493
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
The myeloproliferative neoplasms (MPNs) essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis (MF) are malignancies that frequently harbor the recurrent somatic point mutation JAK2(V617F).
|
21766300 |
2012 |
|
rs77375493
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
The JAK2 V617F somatic mutation, mortality and cancer risk in the general population.
|
21160067 |
2011 |
|
rs77375493
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
However, our data seem to confirm that the JAK2 V617F mutation is rather uncommon in myeloid malignancies other than the classical BCR/ABL MPD negative.
|
19939582 |
2011 |
|
rs77375493
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in the cytoplasmic tyrosine kinase JAK2 (V617F) is key in the pathogenesis of myeloproliferative neoplasms, and translocations involving ABL key in the development of chronic myeloid leukaemia.
|
21722956 |
2011 |
|
rs77375493
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
The frequency of JAK2 V617F mutation is about 90% in patients with PV, 50-60% in patients with essential thrombocythemia (ET), primary myelofibrosis (PMF), and less in patients with other myeloid neoplasms, while extremely rare in lymphoid malignancies.
|
19167611 |
2009 |
|
rs77375493
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
The discovery of an activating somatic mutation in codon 617 of the gene encoding the Janus kinase (JAK)-2 (JAK2 V617F) in patients with myeloproliferative disorders has opened new avenues for the development of targeted therapies for these malignancies.
|
18245540 |
2008 |
|
rs77375493
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
To our knowledge, these findings represent the first identification of JAK2(V617F) in the bone marrow of patients without myeloid malignancies.
|
18032883 |
2007 |
|
rs77375493
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Thus, while JAK2 V617F is uncommon in de novo AML and probably does not occur in lymphoid malignancy, unexplained STAT3 activation is common in AML.
|
16598306 |
2006 |
|
rs77375493
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
To see whether the JAK2 V617F is important in the pathogenesis of lymphoid malignancies, this study analysed the occurrence of the JAK2 V617F mutation in 117 non-Hodgkin lymphomas (NHLs) by a single strand conformation polymorphism assay.
|
16321863 |
2006 |
|
rs77375493
|
|
Malignant Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
In early 2005, several groups of investigators studying myeloid malignancies described a novel somatic point mutation (V617F) in the conserved autoinhibitory pseudokinase domain of the Janus kinase 2 (JAK2) protein, which plays an important role in normal hematopoietic growth factor signaling.
|
16931578 |
2006 |