BCOR Final Exon Internal Tandem Duplication - CISMeF
BCOR Final Exon Internal Tandem DuplicationNCIt concept
Preferred Label : BCOR Final Exon Internal Tandem Duplication;
NCIt synonyms : BCOR Exon 15 ITD; BCOR Exon 16 ITD; BCL6 Co-Repressor Final Exon Internal Tandem Duplication; BCOR Final Exon ITD; MAA2 Final Exon Internal Tandem Duplication; ANOP2 Final Exon Internal Tandem Duplication; MCOPS2 Final Exon Internal Tandem Duplication; BCL6 Corepressor Final Exon Internal Tandem Duplication;
NCIt definition : A genetic abnormality that arises from tandem duplications of the exon encoding the
C-terminus of the BCL-6 corepressor (BCOR) protein, which results in constitutive
activation of BCOR protein and its downstream signaling pathways.;
NCIt note : The literature has referred to this exon as both exon 15 and exon 16.;