BCOR是抑癌基因（BCL6 co-repressor），编码蛋白是一种转录辅阻遏物，当被序列特异性DNA结合蛋白如BCL6和MLLT3募集到启动子区时，可以特异性地抑制基因表达。BCOR的胚系突变与遗传性oculofaciocardiodental和Lenz microphthalmia综合征相关。BCOR融合在软组织和子宫内膜间质肉瘤以及急性早幼粒细胞白血病（APL）中经常出现。这些融合通过激活各种抗凋亡途径导致肿瘤发生。不同肿瘤类型中，BCOR融合可以是N-末端融合也可以是C-末端融合，这也意味着在不同肿瘤中的发生机制是不同的。BCOR截短突变也被证实在不同类型的恶性血液病中经常出现，包括急性髓性白血病（AML）和骨髓增生异常综合征（MDS），以及视网膜母细胞瘤。

BCOR (BCL6 co-repressor) is a transcriptional repressor that is required for normal germinal center formation in B cells. BCOR is a chromatin regulatory protein that functions in a variety of non-canonical epigenetic repressive complexes and binds the transcriptional repressor BCL6. Depletion of BCOR results in loss of Polycomb protein binding at target genes, which is critical for maintaining repressed chromatin. Additionally, the presence of RING1 and RNF2 in the BCOR complex suggests BCOR involvement in the ubiquitination of histones. BCOR functions as a tumor suppressor that is a key regulator of early embryonic development, mesenchymal stem cell function, hematopoiesis and vertebrate laterality. Germline mutations in BCOR are responsible for the inherited oculofaciocardiodental and Lenz microphthalmia syndromes. BCOR fusions are recurrent in soft tissue and endometrial stromal sarcomas, as well as in acute promyelocytic leukemia (APL). These fusions lead to oncogenesis by activating various anti-apoptotic pathways. BCOR has been identified as both the N-terminal and the C-terminal fusion partner depending on the type of cancer in which it is expressed, suggesting differing mechanisms for oncogenesis in these tumors. Somatic BCOR truncating mutations have also been identified in retinoblastoma and hematologic malignancies, including acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).

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