KMT2A/CREBBP Fusion Gene

Preferred Label : KMT2A/CREBBP Fusion Gene;

NCIt synonyms : KMT2A::CREBBP Fusion Gene; MLL/CREBBP Fusion Gene; KMT2A-CREBBP Fusion Gene; MLL/CBP Fusion Gene; MLL-CBP Fusion Gene; MLL-CREBBP Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(11;16)(q23;p13) that fuses various sites within the breakpoint cluster region (BCR) encompassing exons 8-14 of the KMT2A gene upstream of exon 4 of the CREBBP gene. This chromosomal rearrangement is associated with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) with MDS-related cytogenetic abnormality.;

PubMed : 32006151;

Details

Origin ID

C212132;

concept_is_in_subset
- Pediatric Oncology Target Molecular Abnormalities Terminology [NCIt concept]
gene_encodes_gene_product
- KMT2A/CREBBP Fusion Protein [NCIt concept]
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- CREBBP Gene [NCIt concept]
- KMT2A Gene [NCIt concept]

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