Colon cancer is the most common type of
gastrointestinal cancer. A number of specific and sensitive
biomarkers facilitate the diagnosis and monitoring of patients with
colon cancer. Fusion genes are typically identified in
cancer and a majority of the newly identified fusion genes are oncogenic in nature. Therefore, fusion genes are potential
biomarkers and/or
therapy targets in
cancer. In the present study, the regulation of specific candidate fusion genes were investigated using Brother of the Regulator of Imprinted Sites (BORIS) in the HCT116
colon cancer cell line, which is a paralog of the fusion gene regulator
CCCTC-binding factor (CTCF). The copy number of BORIS increased correspondingly to the progression of
colorectal carcinoma from the M0 to the M1a stage. It was identified that EIF3E(e1)-RSPO2(e2), EIF3E(e1)-RSPO2(e3), PTPRK(e1)-RSPO3(e2), PTPRK(e7)-RSPO3(e2), TADA2A-MEF2B and MED13L-CD4 are fusion transcripts present in the transcriptome of the HCT116
colon cancer cell line. CDC42SE2-KIAAO146 is a genomic fusion transcript, which originates from
DNA arrangement in HCT116 cells. BORIS suppresses the expression of EIF3E, RSPO2, PTPRK, RSPO3, TADA2A and CD4 to inhibit the expression of fusion transcripts in HCT116 cells. It was hypothesized that the fusion transcripts investigated in the present study may not be oncogenic in HCT116 cells. As BORIS is not
colorectal carcinoma-specific, the fusion genes investigated may be a
biomarker assemblage for monitoring the progression of
colorectal carcinoma.