DR-405 Development of a Multi-Omic Test for Cancer of Unknown Primary

Cancer of unknown primary (CUP) is defined as a metastatic cancer where clinical investigations fail to identify the primary tissue of origin (TOO). The project will involve development of CUP test involving multi-omic analysis of cell-free DNA isolated from a patient’s blood to accurately predict cancer tissue-of-origin. Machine-learning methods using mutation, DNA methylation and cell-free DNA fragmentation patterns will be used to predict a cancer’s tissue of origin. Analysis involving one or more of these “omic” data types will enable high-accuracy matching of a CUP patient’s blood profile to a large reference dataset of known cancer types. The project will involve generation of DNA sequencing data representing hundreds of patient samples representing CUP and known cancer types. The outcome will be a test which predicts TOO with high accuracy using cell free DNA from liquid biopsy.

Richard Tothill, University of Melbourne Centre for Cancer Research (UMCCR), Australia