|
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 |
|
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 |
|
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 |
|
rs1057519752
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.
|
21228032 |
2011 |
|
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 |
|
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 |
|
rs10974944
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Similar to rs10974944 and rs12343867, rs4495487 in the JAK2 locus is significantly associated with JAK2-positive MPN.
|
22251709 |
2012 |
|
rs10974944
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We genotyped 438 patients with non-SVT, 226 patients with MPNs and 459 healthy controls for three single nucleotide polymorphisms (SNPs) which tag the JAK2 46/1 haplotype (rs12342421 G>C, rs12343867 T>C and rs10974944 C>G).
|
23845539 |
2013 |
|
rs10974944
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In the overall analysis, it was found that the JAK2 46/1 haplotype significantly elevated the risk of MPNs (rs10974944: C vs T: odds ratio (OR) = 2.19, 95 % confidence interval (CI) = 1.86-2.57, P < 0.0001; CC vs TT: OR = 4.63, 95 % CI = 3.32-6.47, P < 0.0001; CT vs TT: OR = 2.49, 95 % CI = 2.11-2.95, P < 0.0001; (CC + CT) vs TT: OR = 2.92, 95 % CI = 2.51-3.39, P < 0.0001; rs12343867: C vs T: OR = 1.88, 95 % CI = 1.59-2.22, P < 0.0001; CC vs TT: OR = 3.16, 95 %CI = 2.14-4.65, P < 0.0001; CT vs TT: OR = 2.04, 95 % CI = 1.51-2.74, P < 0.0001; (CC + CT) vs TT: OR = 2.25, 95 % CI = 1.73-2.95, P < 0.0001) and SVT (C vs T: OR = 1.27, 95 % CI = 1.06-1.52, P = 0.011; CC vs TT: OR = 2.33, 95 % CI = 1.42-3.81, P = 0.001; (CC + CT) vs TT: OR = 1.25, 95 % CI = 1.02-1.53, P = 0.034).
|
25015051 |
2014 |
|
rs10974944
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Genome-wide analysis identified an allele in the JAK2 locus (rs10974944) that predisposes to the development of JAK2(V617F)-positive MPN, as well as three previously unknown MPN modifier loci.
|
19287384 |
2009 |
|
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 |
|
rs121912473
|
|
|
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 |
|
rs121913237
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The disease phenotype in Mx1-Cre, LSL-Nras(G12D) mice is attenuated compared with Mx1-Cre, LSL-Kras(G12D) mice, which die of aggressive myeloproliferative disorder by 4 months of age.
|
21163920 |
2011 |
|
rs121913237
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In mice, expression of endogenous oncogenic Nras (Nras(G12D/+)) in hematopoietic cells leads to expansion of myeloid progenitors, increased long-term reconstitution of bone marrow cells, and a chronic myeloproliferative neoplasm (MPN).
|
23687087 |
2013 |
|
rs121913237
|
|
|
0.040 |
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 |
|
rs121913237
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Expressing oncogenic Nras(G12D) in the hematopoietic compartment of mice induces an aggressive myeloproliferative neoplasm that is exacerbated in homozygous mutant animals.
|
23733505 |
2013 |
|
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 |
|
rs121913504
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121913504
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
CYT387, a novel JAK2 inhibitor, induces hematologic responses and normalizes inflammatory cytokines in murine myeloproliferative neoplasms.
|
20385788 |
2010 |
|
rs121913504
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Preclinical characterization of atiprimod, a novel JAK2 AND JAK3 inhibitor.
|
20372971 |
2011 |
|
rs121913504
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetic resistance to JAK2 enzymatic inhibitors is overcome by HSP90 inhibition.
|
22271575 |
2012 |
|
rs121913520
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1.
|
19175693 |
2009 |
|
rs121913520
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
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 |
|
rs121913614
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.
|
18451306 |
2008 |