|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT.
|
20062088 |
2010 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis.
|
17709604 |
2007 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The thrombopoietin receptor (MPL) has been shown to be mutated (MPL W515L) in myelofibrosis and thrombocytosis yet new approaches to treat this disorder are still required.
|
26919114 |
2016 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO).
|
20113333 |
2010 |
|
rs121913616
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In order to identify novel somatic mutations associated with classic BCR/ABL1-negative myeloproliferative neoplasms, we performed high-coverage genome sequencing of DNA from peripheral blood granulocytes and cultured skin fibroblasts from a patient with MPL W515K-positive primary myelofibrosis.
|
23872309 |
2013 |
|
rs121913616
|
|
|
0.050 |
GeneticVariation |
BEFREE |
To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO).
|
20113333 |
2010 |
|
rs121913616
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with PMF according to previous studies.
|
25176567 |
2014 |
|
rs121913616
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoietin, have been reported in patients with primary essential thrombocythemia (ET) or primary myelofibrosis (PMF).
|
19274616 |
2010 |
|
rs121913616
|
|
|
0.050 |
GeneticVariation |
BEFREE |
A series of primary and secondary acute myeloid leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n=12) was analysed for the MPL(W515K/L) mutation by pyrosequencing.
|
19194467 |
2009 |
|
rs12342421
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF.
|
18006699 |
2008 |
|
rs1456725200
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6).
|
22052707 |
2012 |
|
rs146249964
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1555760738
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs201478192
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The frequency of the V617F JAK2 mutation was highest in patients with PV where 56 out of 70 cases (80%) carried the mutation, followed by ET with 6 of 24 (25) and IMF with 2 of 16 (12.5%) .
|
26617890 |
2015 |
|
rs201478192
|
|
|
0.040 |
GeneticVariation |
BEFREE |
An acquired JAK2 (V617F)mutation has been found in myeloid cells from most patients with chronic idiopathic myelofibrosis (IM), but whether it occurs in a common myelo-lymphoid, rather than a myeloid-restricted, progenitor cell is still debated.
|
17296581 |
2007 |
|
rs201478192
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in several myeloid proliferative neoplasms including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).
|
23666689 |
2013 |
|
rs201478192
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, polycythemia vera and primary myelofibrosis are associated with JAK2 (V617F) mutations.
|
24475114 |
2014 |
|
rs267606870
|
|
|
0.010 |
GeneticVariation |
BEFREE |
IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples).
|
20410924 |
2010 |
|
rs28934578
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6).
|
22052707 |
2012 |
|
rs3184504
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For rs3184504 (T/C, in exon2), the T allele (p.262W) and TT genotype were frequently seen in ET, PV and PMF (P<0.01), and C allele (p.262R) and CC genotype were frequently seen in CML (P<0.01).
|
27111338 |
2016 |
|
rs318699
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF.
|
18006699 |
2008 |
|
rs377467108
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6).
|
22052707 |
2012 |
|
rs4858647
|
|
|
0.010 |
GeneticVariation |
BEFREE |
THRB-RARB rs4858647 had a weak association with PMF only (OR = 1.5; 95% CI = 1-2.1; P-value = .04).
|
29047144 |
2018 |
|
rs587776885
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs758881009
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6).
|
22052707 |
2012 |