|
rs917927904
|
|
|
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 |
|
rs909253
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the subgroup analysis, significant association of rs909253 was found in adenocarcinoma (OR = 1.16, P (z) < 0.001) and hematological malignancy (OR = 1.10, P (z) < 0.001).
|
24136744 |
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 |
|
rs8192284
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The IL-6 receptor rs8192284 was associated with an increased risk of hematologic malignancy (combined ORG 1.42, 95%CI 1.03-1.96), including multiple myeloma (ORG 1.39, 95%CI 0.99-1.95).
|
24059848 |
2013 |
|
rs78245253
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hence, we concluded GATA-2 L359 V is exclusively associated with CML progression but not other hematological malignancies and P250A is a new single nucleotide polymorphism.
|
19304323 |
2009 |
|
rs779530981
|
|
|
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 |
|
rs777017502
|
|
|
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 |
|
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 |
|
rs770692189
|
|
|
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 |
|
rs767464424
|
|
|
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 |
|
rs7656411
|
|
|
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 |
|
rs757874631
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed 77 samples from hematologic malignancies, identifying a somatic mutation in CBL (p.C381R) in one patient with T-ALL that was associated with a uniparental disomy at the CBL locus and a germline heterozygous mutation in one patient with JMML.
|
22591685 |
2012 |
|
rs757333753
|
|
|
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 |
|
rs724159947
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |
|
rs724159946
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |
|
rs724159945
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |
|
rs61754966
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We screened healthy controls and pediatric patients with hematological malignancies and aplastic anemia (AA) for the presence of I171V.
|
15338273 |
2004 |
|
rs5743551
|
|
|
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 |
|
rs562015640
|
|
|
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 |
|
rs397507514
|
|
|
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 |
|
rs397507444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Differential effects of the methylenetetrahydrofolate reductase polymorphisms (C677T and A1298C) on hematological malignancies among Latinos: a meta-analysis.
|
31188929 |
2019 |