rs2201862
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here we aimed to evaluate the association of five germline variations (<i>JAK2</i> 46/1 haplotype tagged by rs12343867, <i>JAK2</i> intron 8 rs12339666, <i>TERT</i> rs2736100, <i>HBS1L</i>-<i>MYB</i> rs9376092 and <i>MECOM</i> rs2201862) and the risk of MPNs in Taiwanese population.
|
29100304 |
2017 |
rs2201862
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In conclusion, JAK2 46/1, TERT rs2736100 and MECOM rs2201862 are the chief predisposing polymorphisms to MPN.
|
29047144 |
2018 |
rs4858647
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study aimed to establish the additional contribution of the recently described MECOM rs2201862, HBS1L-MYB rs9376092 and THRB-RARB rs4858647 polymorphisms to the occurrence of MPN.
|
29047144 |
2018 |
rs1200469268
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the absence of BCR-ABL, the conventional diagnostic algorithm recommends JAK2 V617F mutation testing to support diagnosis of other MPN diseases such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
|
30772299 |
2019 |
rs796065343
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we demonstrate that the most prevalent, activating mutation, CSF3R T618I, is sufficient to drive a lethal myeloproliferative disorder in a murine bone marrow transplantation model.
|
24081659 |
2013 |
rs562533120
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Surprisingly, JAK2 46/1 haplotype was associated significantly not only with JAK2 V617F-mutated MPN, but also with CALR-mutated MPN (OR = 1.4; 95% CI = 1.1-1.8; P-value = .01).
|
29047144 |
2018 |
rs1800562
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that HFE C282Y might be associated with a protective role against CMPD.
|
19258483 |
2009 |
rs104894230
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour.
|
28594414 |
2017 |
rs727503094
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour.
|
28594414 |
2017 |
rs121913502
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three IDH2 R140Q mutations were found in 2/108 MPN (1.85%) and 1/22 MDS (4.54%) patients, while one IDH2 G145G allele was found in 0.92% (1/108) of MPN patients.
|
25486927 |
2015 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A molecular fingerprint distinguishes JAK2(V617F)-positive MPN patients without response to HU treatment, with overexpression of JAK2, MAPK14, PIK3CA, and SFK genes.
|
21331593 |
2011 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Ninety-nine patients with MPN of 225 presenting the JAK2(V617F) mutation by qPCR have been evaluated by DD-PCR also.
|
26189968 |
2015 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Screening for JAK2 V617F may allow specific management of these diseases with JAK2 inhibitors in the future and highlights the need for further studies on the pathogenesis of BCR-ABL-negative JAK2 V617F-negative MPNs.
|
22304488 |
2012 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Screening for the JAK2 V617F mutation in CVT patients seems to be useful even in the absence of overt MPN and/or in the presence of other risk factors for CVT because of its relatively high prevalence and the risk of thrombosis recurrence.
|
28609766 |
2017 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Detection of the JAK2 V617F mutation is a key step in the diagnosis of myeloproliferative neoplasms (MPN).
|
29150911 |
2018 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
JAK2(V617F) determination has proven to be a useful diagnostic tool in patients with some clinical features suggestive for a CMPD, and may have benefit as a way to monitor known disease.
|
18048969 |
2007 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
They also suggest that previous reports of the incidence of JAK2-V617F in CMPD patients, obtained using only analysis of granulocytes, could be underestimations.
|
17854308 |
2007 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We conclude that the JAK2 1849G>T mutation is common in Ph(-) MPD but not critical for transformation to the acute phase of these diseases and that it is generally rare in aggressive leukemias.
|
16037387 |
2005 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Myeloproliferative neoplasms (MPNs) feature a malignant clone containing the JAK2 V617F mutation, or another mutation causing dysregulated JAK2 kinase activity.
|
28008177 |
2017 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Myeloproliferative neoplasms (MPNs) are diseases that carry the JAK2 (V617F) mutation in about 70% of the patients.
|
22227528 |
2012 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Among these 22 families, the absence of the JAK2 mutation both in purified T and B cells in 13 unrelated patients and the observation of variable ratios of the JAK2 mutant allele in patient leucocytes indicated that the Val617Phe JAK2 mutation was acquired in familial MPDs.
|
16537803 |
2006 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The data suggest that the JAK2(V617F) mutation is apparently much more common than MPDs.
|
16946305 |
2007 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We report on clinical and molecular data in the largest cohort of JAK2 V617F mutant MPN Danish patients (n=102) being treated long-term with rIFN-alpha2 (rIFN-alpha2a and rIFN-alpha2b in a non-clinical trial setting.The median follow-up was 42 months.
|
23827351 |
2013 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mesenteric venous thrombosis secondary to an unsuspected JAK2 V617F-positive myeloproliferative disorder.
|
19693645 |
2012 |
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The etiology of myeloproliferative neoplasms (MPN) (polycythemia vera; essential thrombocythemia; primary myelofibrosis) is unknown, however they are associated with a somatic mutation--JAK2 V617F--suggesting a potential role for environmental mutagens.
|
25719551 |
2015 |