|
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 |
|
rs1441084781
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that the S100A mRNA levels were increased in MPN patient-derived circulatory CD34<sup>+</sup> cells, and that their protein expression levels were also augmented in their granulocytes and bone marrow stroma cells, depending on the JAK2V617F mutation allele burden.
|
29946821 |
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 |
|
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 |
|
rs764634461
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, our results herein may provide clues to understand the pathogenesis mechanism of JAK2 F556V mutation in the MPNs.
|
29842959 |
2018 |
|
rs778767225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that the S100A mRNA levels were increased in MPN patient-derived circulatory CD34<sup>+</sup> cells, and that their protein expression levels were also augmented in their granulocytes and bone marrow stroma cells, depending on the JAK2V617F mutation allele burden.
|
29946821 |
2018 |
|
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 |
|
rs121913529
|
|
|
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 |
|
rs121918464
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Activating mutations, such as E76K and D61Y, in PTPN11 (SHP2), a protein tyrosine phosphatase implicated in multiple cell signaling processes, are associated with 35% of patients with juvenile myelomonocytic leukemia (JMML), an aggressive childhood myeloproliferative neoplasm (MPN).
|
27840422 |
2017 |
|
rs12339666
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, germline variations at <i>JAK2</i> (both the 46/1 haplotype and rs12339666</span>) and <i>TERT</i> rs2736100 were associated with MPN</span>s in Taiwanese population.
|
29100304 |
2017 |
|
rs397507510
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Activating mutations, such as E76K and D61Y, in PTPN11 (SHP2), a protein tyrosine phosphatase implicated in multiple cell signaling processes, are associated with 35% of patients with juvenile myelomonocytic leukemia (JMML), an aggressive childhood myeloproliferative neoplasm (MPN).
|
27840422 |
2017 |
|
rs562015640
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Activating mutations, such as E76K and D61Y, in PTPN11 (SHP2), a protein tyrosine phosphatase implicated in multiple cell signaling processes, are associated with 35% of patients with juvenile myelomonocytic leukemia (JMML), an aggressive childhood myeloproliferative neoplasm (MPN).
|
27840422 |
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 |
|
rs104894365
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have previously developed and characterized a knock-in mouse model that carries one of the most frequent KRAS-NS-related mutations, the K-Ras(V14I) substitution, which recapitulates most of the alterations described in NS patients, including MPDs.
|
27174785 |
2016 |
|
rs3733609
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Altogether, we found a novel hereditary susceptible factor-TET2 rs3733609 C/T variant for the development of MPN, suggesting the variant may be partially responsible for the pathogenesis and accumulation of MPN.
|
26843622 |
2016 |
|
rs59384377
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For these MPN cases plus V617F carriers, we replicated the germ line JAK2 46/1 haplotype (rs59384377: odds ratio [OR] = 2.4, P = 6.6 × 10(-89)), previously associated with V617F-positive MPN.
|
27365426 |
2016 |
|
rs1057519819
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.
|
26286251 |
2015 |
|
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 |
|
rs16754
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Individuals carrying variant G alleles of WT1 rs16754 showed a relatively low prevalence of BCR-ABL1-negative MPN, compared with those carrying wild A alleles of WT1 rs16754 (Hazard ratio 0.10-0.65, P<0.05).
|
25932444 |
2015 |
|
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 |
|
rs1057519721
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we identify G935R, Y931C, and E864K mutations within the JAK2 kinase domain that confer resistance across a panel of JAK inhibitors, whether present in cis with JAK2 V617F (observed in MPNs) or JAK2 R683G (observed in B-ALL).
|
22271575 |
2012 |
|
rs12340895
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggest that the JAK2 46/1 haplotype is a risk factor for MPN in the Chinese population, and patients with GG genotype in rs12340895 locus are susceptible to JAK2 V617F mutation.
|
23054641 |
2012 |
|
rs4495487
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicate that the C allele of JAK2 rs4495487, in addition to the 46/1 haplotype, contributes significantly to the occurrence of JAK2 V617F-positive and JAK2 V617F-negative MPNs in the Japanese population.
|
22251709 |
2012 |
|
rs529311209
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we identify G935R, Y931C, and E864K mutations within the JAK2 kinase domain that confer resistance across a panel of JAK inhibitors, whether present in cis with JAK2 V617F (observed in MPNs) or JAK2 R683G (observed in B-ALL).
|
22271575 |
2012 |
|
rs1057520016
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although JAK2V617F is the predominant allele associated with MPNs, other activating Janus kinase 2 (JAK2) alleles (such as K539L, T875N) also have been identified in distinct MPNs.
|
21362419 |
2011 |