rs77375493
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|
|
0.080 |
GeneticVariation |
BEFREE |
For JAK2 V617F, the most frequent mutation in myeloproliferative neoplasms, accurate determination of mutational loads is of interest at diagnosis, for phenotypic and prognostic purposes, and during follow-up for minimal residual disease assessment.
|
26596525 |
2016 |
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Establishing optimal quantitative-polymerase chain reaction assays for routine diagnosis and tracking of minimal residual disease in JAK2-V617F-associated myeloproliferative neoplasms: a joint European LeukemiaNet/MPN&MPNr-EuroNet (COST action BM0902) study.
|
23860450 |
2013 |
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
QuanTAS-PCR is a simple, cost-efficient, closed-tube method for JAK2 V617F mutation quantification that can detect very low levels of the mutant allele, thus enabling analysis of minimal residual disease.
|
23617802 |
2013 |
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The assay characteristics and our initial evaluation indicate this method can be used for the detection and quantification of JAK2 V617F, which should be useful for diagnosis of myeloproliferative neoplasms and potentially for monitoring minimal residual disease in future trials of therapies targeted to myeloproliferative neoplasms.
|
19959796 |
2010 |
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The combination of ARMS-PCR and capillary electrophoresis enables quantitative assay of JAK2 V617F mutation, which helps in chronic MPD diagnosis and estimation of minimal residual disease.
|
19215672 |
2009 |
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In conclusion, allogeneic stem cell transplantation after dose-reduced conditioning induces high rates of molecular remission in JAK2-positive patients with myelofibrosis, and quantification of V617F-JAK2 mutation by real-time PCR allows the detection of minimal residual disease to guide adoptive immunotherapy.
|
17018857 |
2007 |
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Although an amplification refractory mutation system (ARMS) was shown to be slightly superior in terms of sensitivity, our real-time PCR method provides the potential for quantification of the JAK2 V617F mutation, having potential future applications in the monitoring of minimal residual disease or predicting outcome of disease severity.
|
17251334 |
2007 |
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Use of the activating gene mutation of the tyrosine kinase (VAL617Phe) JAK2 as a minimal residual disease marker in patients with myelofibrosis and myeloid metaplasia after allogeneic stem cell transplantation.
|
17565328 |
2007 |
rs147001633
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In addition to WT1 overexpression, other MRD positive markers were: NPM1 (Type A, B, K), DNMT3A (R882H), MLL-PTD, IDH1 (R132H) and KRAS (G12S).
|
30457973 |
2019 |
rs147001633
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We investigated the prognostic impact of minimal residual disease (MRD) monitoring in acute myeloid leukemia patients harboring DNA methyltransferase 3A-R882H/-R882C mutations (DNMT3A<sup>mut</sup>).
|
28643785 |
2018 |
rs147001633
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|
|
0.030 |
GeneticVariation |
BEFREE |
We identified 24 DNMT3A R882H mutated patients out of 134 acute myeloid leukemia screened samples and we analyzed in these patients the kinetics of minimal residual disease after induction and consolidation therapy.
|
25554589 |
2015 |
rs1057520009
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Therefore, it was proposed that the XPO1 E571K variant may serve as a minimal residual disease tool in this setting.
|
28196522 |
2017 |
rs1057520009
|
|
|
0.020 |
GeneticVariation |
BEFREE |
To conclude, the detection of the XPO1 E571K mutation in biopsy and plasma cell-free DNA by digital PCR may be used as a novel biomarker in classical Hodgkin lymphoma for both diagnosis and minimal residual disease, and pinpoints a crucial role of XPO1 in classical Hodgkin lymphoma pathogenesis.
|
27479820 |
2016 |
rs17069665
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further analyses were performed to explore associations of rs17069665 and rs9400241 with ALL susceptibility in terms of age, gender, immunophenotype, minimal residual disease (MRD), and other clinical characteristics.
|
31691337 |
2020 |
rs9400241
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As for rs9400241, the effects were more predominant in children < 10 years, and in patients with pre B ALL, positive MRD, anemia, or hepatomegaly.
|
31691337 |
2020 |
rs104894229
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition to WT1 overexpression, other MRD positive markers were: NPM1 (Type A, B, K), DNMT3A (R882H), MLL-PTD, IDH1 (R132H) and KRAS (G12S).
|
30457973 |
2019 |
rs121913500
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition to WT1 overexpression, other MRD positive markers were: NPM1 (Type A, B, K), DNMT3A (R882H), MLL-PTD, IDH1 (R132H) and KRAS (G12S).
|
30457973 |
2019 |
rs121913530
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition to WT1 overexpression, other MRD positive markers were: NPM1 (Type A, B, K), DNMT3A (R882H), MLL-PTD, IDH1 (R132H) and KRAS (G12S).
|
30457973 |
2019 |
rs377577594
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the prognostic impact of minimal residual disease (MRD) monitoring in acute myeloid leukemia patients harboring DNA methyltransferase 3A-R882H/-R882C mutations (DNMT3A<sup>mut</sup>).
|
28643785 |
2018 |
rs387907272
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These observations suggest that ddPCR can sensitively detect the MYD88 L265P mutation in cell-free DNA and could be used as non-invasive diagnostics, but may not be applicable for monitoring minimal residual diseases in PCNSL.
|
29151258 |
2018 |
rs1077858
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SNPs in <i>SLCO2B1</i> associated with significant differences in tissue abiraterone (rs1789693, <i>P</i> = 0.0008; rs12422149, <i>P</i> = 0.03) and higher rates of minimal residual disease (tumor volume < 0.5 cc; rs1789693, 67% vs. 27%, <i>P</i> = 0.009; rs1077858, 46% vs. 0%, <i>P</i> = 0.03).
|
28389510 |
2017 |
rs12422149
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SNPs in <i>SLCO2B1</i> associated with significant differences in tissue abiraterone (rs1789693, <i>P</i> = 0.0008; rs12422149, <i>P</i> = 0.03) and higher rates of minimal residual disease (tumor volume < 0.5 cc; rs1789693, 67% vs. 27%, <i>P</i> = 0.009; rs1077858, 46% vs. 0%, <i>P</i> = 0.03).
|
28389510 |
2017 |
rs1789693
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SNPs in <i>SLCO2B1</i> associated with significant differences in tissue abiraterone (rs1789693, <i>P</i> = 0.0008; rs12422149, <i>P</i> = 0.03) and higher rates of minimal residual disease (tumor volume < 0.5 cc; rs1789693, 67% vs. 27%, <i>P</i> = 0.009; rs1077858, 46% vs. 0%, <i>P</i> = 0.03).
|
28389510 |
2017 |
rs2838958
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Multiple Cox regression analyses revealed associations of minimal residual disease (MRD) at day 33 (hazard ratio 3.458; P = 0.002), MRD at day 78 (hazard ratio 6.330; P = 0.001), SLCO1B1 rs4149056 (hazard ratio 12.242; P < 0.001), and SCL19A1 rs2838958 (hazard ratio 2.324; P = 0.019) with EFS.
|
28525903 |
2017 |
rs4149056
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Multiple Cox regression analyses revealed associations of minimal residual disease (MRD) at day 33 (hazard ratio 3.458; P = 0.002), MRD at day 78 (hazard ratio 6.330; P = 0.001), SLCO1B1 rs4149056 (hazard ratio 12.242; P < 0.001), and SCL19A1 rs2838958 (hazard ratio 2.324; P = 0.019) with EFS.
|
28525903 |
2017 |