rs121913500
|
|
Leukemia, Myelocytic, Acute
|
|
0.760 |
GeneticVariation
|
BEFREE |
Isocitrate dehydrogenase 1 (IDH1) is important for reductive carboxylation in cancer cells, and the IDH1 R132H mutation plays a pathogenic role in cancers including acute myeloid leukemia (AML).
|
30862724 |
2019 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
|
0.760 |
GeneticVariation
|
BEFREE |
All the initial diagnostic specimens with IDH1 p.R132H mutation including acute myeloid leukemia (n=30), myelodysplastic syndromes (MDS) (n=10), MDS/myeloproliferative neoplasms (MPN) (n=4), and MPN (n=5) were positive by IHC, demonstrating 100% antibody sensitivity.
|
29635257 |
2018 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
|
0.760 |
GeneticVariation
|
BEFREE |
We recently reported the use of zebrafish to evaluate the hematopoietic function of isocitrate dehydrogenase 1 (IDH1) and the effects of expressing human IDH1-R132H that is frequently identified in human acute myeloid leukemia (AML), in myelopoiesis, with a view to develop zebrafish as a model of AML.
|
28735489 |
2017 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
T |
0.760 |
CausalMutation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
|
0.760 |
GeneticVariation
|
BEFREE |
Here we performed a large-scale RNA interference (RNAi) screen to identify genes that are synthetic lethal to the IDH1(R132H) mutation in AML and identified the anti-apoptotic gene BCL-2.
|
25599133 |
2015 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
T |
0.760 |
CausalMutation
|
CLINVAR |
Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients.
|
24606448 |
2014 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
T |
0.760 |
CausalMutation
|
CLINVAR |
Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients.
|
22397365 |
2012 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
G |
0.760 |
CausalMutation
|
CLINVAR |
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
|
22417203 |
2012 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients.
|
22397365 |
2012 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
T |
0.760 |
CausalMutation
|
CLINVAR |
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
|
22417203 |
2012 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
|
0.760 |
GeneticVariation
|
BEFREE |
The IDH1 R132H point mutation is common in gliomas and acute myelogenous leukemia, but this has not been previously reported in breast carcinoma.
|
23111200 |
2012 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
G |
0.760 |
CausalMutation
|
CLINVAR |
The role of mutations in epigenetic regulators in myeloid malignancies.
|
22898539 |
2012 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
|
0.760 |
GeneticVariation
|
BEFREE |
Our results demonstrate an association between the R132H IDH1 mutation and intermediate risk cytogenetics in AML, suggesting that R132H IDH1 mutation may be associated with improved clinical outcome and demonstrate the feasibility of using mutation-specific antibodies to genotype and subclassify AML.
|
22172803 |
2012 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
A |
0.760 |
CausalMutation
|
CLINVAR |
The role of mutations in epigenetic regulators in myeloid malignancies.
|
22898539 |
2012 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
T |
0.760 |
CausalMutation
|
CLINVAR |
The role of mutations in epigenetic regulators in myeloid malignancies.
|
22898539 |
2012 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
|
22417203 |
2012 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
T |
0.760 |
CausalMutation
|
CLINVAR |
Impact of genetic features on treatment decisions in AML.
|
22160010 |
2011 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
A |
0.760 |
CausalMutation
|
CLINVAR |
Impact of genetic features on treatment decisions in AML.
|
22160010 |
2011 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
G |
0.760 |
CausalMutation
|
CLINVAR |
Impact of genetic features on treatment decisions in AML.
|
22160010 |
2011 |
rs121913500
|
|
Leukemia, Myelocytic, Acute
|
T |
0.760 |
CausalMutation
|
CLINVAR |
Recurring mutations found by sequencing an acute myeloid leukemia genome.
|
19657110 |
2009 |