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TranscriptomicsDICER1 hotspot mutations cause defective miRNA processing
Recurrent somatic hotspot mutations of DICER1 appear to be clustered around each of four critical metal binding residues in the RNase IIIB domain of DICER1. This domain is responsible for cleavage of the 3’ end of the 5p-miRNA strand of a pre-mRNA hairpin. To investigate the effects of these cancer-...
ORGANISM(S): Mus musculus 
2012-10-01 | E-GEOD-40965 | biostudies-arrayexpress
TranscriptomicsMutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors
Blastemal histology in chemotherapy-treated pediatric Wilms tumors (nephroblastoma) is associated with adverse prognosis. To uncover the underlying tumor biology and find novel therapeutic leads for this subgroup of patients, we analyzed 58 blastemal-type Wilms tumors by exome and transcriptome sequ...
ORGANISM(S): Homo sapiens 
2015-02-18 | E-GEOD-60081 | biostudies-arrayexpress
ProteomicsHotspot DNMT3A and IDH1/2 Mutations in Acute Myeloid Leukemia and Their Relevance as Targets for Immunotherapy
DNA methyltransferase 3A (DNMT3A) and isocitrate dehydrogenase 1 & 2 (IDH1/2) are genes involved in epigenetic regulation, each mutated in 7-23% of acute myeloid leukemia (AML). Here, we investigated whether hotspot mutations in these genes encode neoantigens that can be targeted by immunotherapy. F...
ORGANISM(S): Homo sapiens (Human) 
2024-06-23 | PXD050560 | Pride
Hotspot mutation Iso-citrate dehydrogenase 2 Dna methyltransferase 3a Cancer immunotherapy Acute myeloid leukemia Neoantigen T-cell therapy 
TranscriptomicsGene expression data from Wilms tumor samples
Wilms tumor (nephroblastoma) is a pediatric kidney tumor that arises from renal progenitor cells. Since the blastemal type is associated with adverse prognosis, we characterized such Wilms tumors by exome and transcriptome analysis. We detected novel, recurrent somatic mutations affecting the SIX1/2...
ORGANISM(S): Homo sapiens 
2015-02-18 | E-GEOD-53224 | biostudies-arrayexpress
GenomicsStructure-guided functional suppression of AML-associated DNMT3A hotspot mutations
Structure-guided functional suppression of AML-associated DNMT3A hotspot mutations
PRJNA937683 | ENA
ProteomicsHotspot SF3B1 mutations determine response to PARP inhibitors
Hotspot mutations in the spliceosomal component gene SF3B1 underpin a number of cancers and have a neomorphic function leading to global disruption of canonical splicing and aberrant splicing of hundreds of transcripts. However, the functional consequences of this misplicing and resultant genetic vu...
ORGANISM(S): Homo sapiens (Human) 
2023-04-19 | PXD019046 | Pride
Human Sf3b1 Ms3 Tmt Cancer Parp inhibitors 
ProteomicsMitochondrial ribosomal RNA is the target of functionally dominant hotspot mutations in cancer
The vast majority of recurrent somatic mutations arising in tumors affect protein-coding genes in the nuclear genome. Here, through population-scale analysis of 14,079 whole tumor genomes, we report the discovery of highly recurrent mutations affecting both the small (12S, MT-RNR1) and large (16S, M...
ORGANISM(S): Homo sapiens (Human) 
2025-09-11 | PXD057390 | Pride
Mitochondrial dna mutation Heteroplasmy Cancer Mt-rnr1 M.1227g>a 
TranscriptomicsDICER1 hotspot mutations cause defective miRNA processing
Recurrent somatic hotspot mutations of DICER1 appear to be clustered around each of four critical metal binding residues in the RNase IIIB domain of DICER1. This domain is responsible for cleavage of the 3’ end of the 5p-miRNA strand of a pre-mRNA hairpin. To investigate the effects of these cancer-...
ORGANISM(S): Mus musculus 
2012-10-01 | GSE40965 | GEO
GenomicsCancer hotspot mutations rewire ERK2 specificity by selective exclusion of docking interactions
Cancer hotspot mutations rewire ERK2 specificity by selective exclusion of docking interactions
PRJNA1208946 | ENA
GenomicsTargeting of DNMT3A hotspot mutations in Clonal Hematopoiesis and Acute Myeloid Leukemia
Targeting of DNMT3A hotspot mutations in Clonal Hematopoiesis and Acute Myeloid Leukemia
PRJNA612341 | ENA
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