rs1057519802
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1.
|
18971950 |
2009 |
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 |
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 |
rs148704956
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study retrospectively examined the impact of a single-nucleotide polymorphism (rs2275913, G197A) in the IL-17 gene of a total 510 recipients with hematologic malignancies and their unrelated donors on the clinical outcomes in HLA-matched myeloablative (discovery study) and nonmyeloablative (validation study) BMT through the Japan Marrow Donor Program (JMDP).
|
21217785 |
2011 |
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 |
rs1042522
|
|
|
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 |
The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk.
|
23029260 |
2012 |
rs878854066
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk.
|
23029260 |
2012 |
rs3921
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study retrospectively examined the impact of a single nucleotide variation (rs3921, +1642C>G) in the CXCL10 gene on transplant outcomes in a cohort of 652 patients who underwent unrelated HLA-matched bone marrow transplantation (BMT) for hematologic malignancies.
|
23291247 |
2013 |
rs267606706
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN.
|
23696637 |
2013 |
rs387906664
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN.
|
23696637 |
2013 |
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 |
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 |
rs25489
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The current meta-analysis indicated that the Arg280His polymorphism in the XRCC1 gene might not be a risk factor for hematological malignancies.
|
24096581 |
2014 |
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 |
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 |
rs2229094
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subgroup meta-analysis suggested that rs2239704 was likely to increase the risk of hematological malignancy (OR = 1.10, 99% CI = 1.01-1.20, P = 0.023, I(2) = 0.0%), and rs2229094 was specific for the increased risk of adenocarcinoma (OR = 1.33, 99% CI = 1.11-1.59, P = 0.002, I(2) = 0.0%).
|
24349304 |
2013 |
rs2239704
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subgroup meta-analysis suggested that rs2239704 was likely to increase the risk of hematological malignancy (OR = 1.10, 99% CI = 1.01-1.20, P = 0.023, I(2) = 0.0%), and rs2229094 was specific for the increased risk of adenocarcinoma (OR = 1.33, 99% CI = 1.11-1.59, P = 0.002, I(2) = 0.0%).
|
24349304 |
2013 |
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 |
rs1799782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The current meta-analysis indicated that the Arg194Trp polymorphism in the XRCC1 gene might be not a risk factor for hematological malignancies.
|
24414482 |
2014 |
rs13347
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, our results indicate that among investigated single nucleotide polymorphisms (SNPs), only CD44 rs13347 has an impact on the efficacy of HSCs mobilization in patients with hematologic malignancies.
|
24680978 |
2014 |
rs724159945
|
|
T |
0.700 |
CausalMutation |
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 |
rs724159947
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |