Evaluating the clinical applicability of tumour mutational signatures in colorectal cancer

PETER GEORGESON
PhD Candidate
University of Melbourne 
PhD completion seminar

Colorectal cancer (CRC) is a major health issue in Australia. Outcomes can be substantially improved by early detection, treatment, and risk management, but the factors contributing to CRC risk are poorly understood. Genomic sequencing offers significant promise for improving both our understanding of CRC and our capacity to accurately assess risk, and recently the concept of a tumour mutational signature has emerged, suggesting that the molecular processes involved in the development of cancer leave a detectable imprint on the genome.

Mutational signatures have proven to be a powerful tool for identifying tumour types and their genetic aetiology, but their clinical applicability remains largely untested, because the strength of the relationship between an observed mutational signature and the underlying phenotype has not been well characterised.

In this PhD completion seminar Peter investigates the effectiveness of tumour mutational signatures for identifying and understanding sub-types of CRC by describing specific use-cases where signatures can enhance current knowledge, highlighting both their suitability and limitations.

Peter Georgeson is a PhD student at the Colorectal Oncogenomics Group, based at the University of Melbourne Centre for Cancer Research. Peter has a computational background and is focused on applying bioinformatics methods to genomic data to better understand colorectal cancer. Peter’s research aims to utilise tumour mutational signatures to identify the underlying aetiology driving different sub-types of colorectal cancer, and to ultimately translate these results into clinically actionable utility.