DMMC Course: EPIGENETICS: FROM MECHANISMS TO MEDICINES

1700-1740 Tuesday 26 June 2007. O’Reilly Hall, University College Dublin.

Leaving an imprint on Cancer
Dr Amanda McCann (University College Dublin)

To date, it is estimated that over 200 imprinted / parent of origin genes are present in the human genome. Understanding their regulation, and how they may contribute to human disease is the focus of much experimental research in many disorders particularly in cancer. This is primarily due to the fact that in contrast to most autosomal genes which are active from both the mothers, and the fathers inherited copy, imprinted genes are selectively expressed only from one parental copy in a tissue specific manner. Alterations in this single dosage are key in cancer development. This lecture will focus specifically on the evidence that altered imprinted gene dosage either through loss of imprinting (LOI), or gain of imprinting (GOI), can be frequently detected in cancer. Alterations in the imprinting phenotype of alpha-T-catenin (CTNNA3) in urothelial cell carcinoma of the bladder and breast cancer will be specifically discussed.