rs77375493
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Although the Jak2-V617F mutation has generated strong awareness because of its causative role in myeloproliferative disorders, reports of Jak2 gene aberrations linked to hematologic malignancies have preceded those of V617F by nearly a decade.
|
19216843 |
2009 |
rs77375493
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The gain of function mutation JAK2-V617F is very frequently found in myeloproliferative neoplasms (MPNs) and is strongly implicated in pathogenesis of these and other hematological malignancies.
|
24404189 |
2014 |
rs77375493
|
|
|
0.040 |
GeneticVariation |
BEFREE |
However it is not so easy, because iPSCs from hematological malignancies have been established only from myeloproliferative neoplasms including chronic myelogenous leukemia (CML) and JAK2-V617F mutation-positive polycythemia vera (PV). iPSC technology has great potential to promote oncology research based on patient samples.
|
23807288 |
2013 |
rs77375493
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The discovery of the highly prevalent activating JAK (Janus kinase) 2 V617F mutation in myeloproliferative neoplasms, and of other pseudokinase domain-activating mutations in JAK2, JAK1 and JAK3 in blood cancers, prompted great interest in understanding how pseudokinase domains regulate kinase domains in JAKs.
|
23863177 |
2013 |
rs1042522
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk.
|
23029260 |
2012 |
rs1042522
|
|
|
0.020 |
GeneticVariation |
BEFREE |
R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting.
|
25768405 |
2015 |
rs1131691014
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk.
|
23029260 |
2012 |
rs1131691014
|
|
|
0.020 |
GeneticVariation |
BEFREE |
R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting.
|
25768405 |
2015 |
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
MTHFR C677T polymorphism may be a good predictor for MTX toxicity in adult hematological malignancies.
|
27270164 |
2016 |
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Differential effects of the methylenetetrahydrofolate reductase polymorphisms (C677T and A1298C) on hematological malignancies among Latinos: a meta-analysis.
|
31188929 |
2019 |
rs387907272
|
|
|
0.020 |
GeneticVariation |
BEFREE |
However, the seminal discoveries of MYD88 (L265P) mutation, present in the vast majority (85-100 %), and CXCR4 (WHIM) mutations, identified in nearly a third of patients (who almost exclusively harbor the MYD88 (L265P) variant), have laid a solid foundation for a paradigm shift in our diagnostic and therapeutic approaches towards this rare hematologic malignancy.
|
26942591 |
2016 |
rs387907272
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Although the absence of the MyD88 L265P somatic mutation in our SS cohort does not exclude a common germline susceptibility gene in SS, it might suggest a distinct operating pathogenetic mechanism in SS-related lymphoma compared with WM and other hematological malignancies.
|
24153350 |
2014 |
rs878854066
|
|
|
0.020 |
GeneticVariation |
BEFREE |
R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting.
|
25768405 |
2015 |
rs878854066
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk.
|
23029260 |
2012 |
rs104894226
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis.
|
17517660 |
2007 |
rs1057519766
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three out of 14 (21.4 %) C57BL/6J mice transplanted with FLT3-N676K-transduced primary hematopoietic progenitor cells developed acute leukemia (latency of 68, 77, and 273 days), while no hematological malignancy was observed in the control groups including FLT3-ITD.
|
26891877 |
2016 |
rs1057520009
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recent reports have shown molecular alterations in the gene encoding XPO1 and showed a mutation hotspot (E571K) in the following two hematological malignancies with similar phenotypes and natural histories: primary mediastinal diffuse large B cell lymphoma and classical Hodgkin's lymphoma.
|
28196522 |
2017 |
rs1114167651
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.
|
17177198 |
2007 |
rs112445441
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis.
|
17517660 |
2007 |
rs11536889
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We retrospectively examined whether or not genetic variations in toll-like receptor 1 (rs5743551, -7202GQ>A), toll-like receptor 2 (rs7656411, 22215G>T), and toll-like receptor 4 (rs11536889, +3725G>C) affected transplant outcomes in a cohort of 365 patients who underwent unrelated HLA-matched bone marrow transplantation (for hematologic malignancies through the Japan Marrow Donor Program.
|
28484092 |
2017 |
rs121434596
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis.
|
17517660 |
2007 |
rs121913507
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The findings also suggest that targeting the SPHK/S1P axis may provide an alternative to tyrosine kinase inhibitors, alone or in combination, for the treatment of aggressive mastocytosis and other hematological malignancies associated with the D816V-KIT mutation.
|
29643855 |
2018 |
rs121913682
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The findings also suggest that targeting the SPHK/S1P axis may provide an alternative to tyrosine kinase inhibitors, alone or in combination, for the treatment of aggressive mastocytosis and other hematological malignancies associated with the D816V-KIT mutation.
|
29643855 |
2018 |
rs121918453
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.
|
17177198 |
2007 |
rs121918454
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.
|
17177198 |
2007 |