|
rs1042026735
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found three missense (p.R132C, p.R132G, and p.I99M; occurred in five patients) and one silent mutation (c.315C>T; occurred in two patients) in the IDH1 gene and two missense mutations (p.R140Q and p.R172K; occurred in four AML patients) and one silent mutation (c.435G>A) in the IDH2 gene.
|
20946881 |
2010 |
|
rs1057519736
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
|
22417203 |
2012 |
|
rs1057519736
|
|
G |
0.700 |
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 |
|
rs1057519736
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The role of mutations in epigenetic regulators in myeloid malignancies.
|
22898539 |
2012 |
|
rs1057519736
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Impact of genetic features on treatment decisions in AML.
|
22160010 |
2011 |
|
rs1057519906
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs1057519906
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs118101777
|
|
|
0.020 |
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 |
|
rs118101777
|
|
|
0.020 |
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 |
|
rs121913502
|
|
A |
0.780 |
CausalMutation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs121913502
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Of 230 samples from patients with AML 30 (13%) samples had DNMT3A mutations, 16 (7%) samples had IDH2 R140Q mutations and 36 (16%) samples had IDH1 mutations.
|
24887327 |
2014 |
|
rs121913502
|
|
|
0.780 |
GeneticVariation |
BEFREE |
IDH mutations occurred at a considerable frequency of 15.89% in Chinese AML cases; IDH2 R140Q was the most frequent genetic alteration and was associated with older age, normal karyotype, and French-American-British classification M2 at diagnosis.
|
22494415 |
2012 |
|
rs121913502
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121913502
|
|
|
0.780 |
GeneticVariation |
BEFREE |
IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples).
|
20410924 |
2010 |
|
rs121913502
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Intriguingly, the IDH2 mutation p.R140Q and novel IDH1 mutation p.I99M co-occurred in a 75-year-old patient with AML developed from myelodysplastic syndromes (MDS).
|
20946881 |
2010 |
|
rs121913502
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs121913502
|
|
A |
0.780 |
CausalMutation |
CLINVAR |
Impact of genetic features on treatment decisions in AML.
|
22160010 |
2011 |
|
rs121913502
|
|
|
0.780 |
GeneticVariation |
BEFREE |
To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse model of AML in which mice were transplanted with nucleophosmin1 (NPM)(+/-) hematopoietic stem/progenitor cells cotransduced with four mutant genes (NPMc, IDH2/R140Q, DNMT3A/R882H, and FLT3/ITD), which often occur simultaneously in human AML patients.
|
25795706 |
2015 |
|
rs121913502
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
There were 9 AML patients with R140Q mutation, 1 patient with R140W mutation, and 1 patient with R172K mutation.
|
23815907 |
2013 |
|
rs121913502
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Intriguingly, the IDH2 mutation p.R140Q and novel IDH1 mutation p.I99M co-occurred in a 75-year-old patient with AML developed from myelodysplastic syndromes (MDS).
|
20946881 |
2010 |
|
rs121913502
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Genome-wide co-expression network analysis identified several IDH2 R140Q</span> co</span>-expressed genes, of which</span> 56 were significantly associated with AML OS.
|
30896832 |
2019 |
|
rs121913502
|
|
A |
0.780 |
CausalMutation |
CLINVAR |
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
|
22417203 |
2012 |
|
rs121913502
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia.
|
23949315 |
2013 |
|
rs121913502
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia.
|
23949315 |
2013 |
|
rs121913502
|
|
T |
0.780 |
CausalMutation |
CLINVAR |
Impact of genetic features on treatment decisions in AML.
|
22160010 |
2011 |