BCOR mutations deregulate cell cycle and hypoxic adaptation pathways in retinoblastoma

Most cases of RB are initiated by bi-allelic mutational inactivation of the RB1 gene. After RB1, the gene that is most commonly mutated gene in RB is BCOR, which is mutated in approximately 20% of RB tumors and is associated with a more aggressive tumor phenotype and worse patient outcomes.

Here, we interrogated BCOR in low passage RB cell lines using RNA sequencing. We show that loss of BCOR downregulates the expression of genes associated with cell cycle regulation and upregulates genes associated with hypoxic adaptation.