Tumour mutational burden using a targeted panel approach for comprehensive tumour profiling focusing on colorectal cancer

Rodney J Scott; Andrew Ziolkowski; David Mossman; Michael Hipwell

doi:10.1186/s13053-025-00308-9

Tumour mutational burden using a targeted panel approach for comprehensive tumour profiling focusing on colorectal cancer

Hered Cancer Clin Pract. 2025 Feb 28;23(1):10. doi: 10.1186/s13053-025-00308-9.

Authors

Rodney J Scott^{1

2}, Andrew Ziolkowski³, David Mossman³, Michael Hipwell³

Affiliations

¹ Division of Molecular Medicine, NSW Health Pathology, New Lambton, NSW, 2305, Australia. rodney.scott@newcastle.edu.au.
² Hunter Medical Research Institute, The School of Biomedical Sciences, Faculty of Health and Wellbeing, University of Newcastle, Callaghan, NSW, 2308, Australia. rodney.scott@newcastle.edu.au.
³ Division of Molecular Medicine, NSW Health Pathology, New Lambton, NSW, 2305, Australia.

Abstract

There is an increasing recognition that comprehensive tumour profiling (CTP) represents an important adjunct to the diagnosis of malignancy providing not only an assessment of how many mutations there are in any given tumour which reflects the probability of immune checkpoint inhibitor success, but also which mutations are associated with targeted therapies, a signature that reflects environmental insult and potentially the identification of cancers of unknown origin.This short review describes an approach to assaying tumour mutational burden (TMB), what the difficulties are in the assessment of the TMB and what it can be applied to in regards to improving patient outcomes. A final section of the review delves into some examples of colorectal cancer studies that identify findings that suggest there remains much to learn about tumour development.

Keywords: Applications; Colorectal cancer; Epigenetic change and large deletions; Tumour Mutational Burden.

Publication types

Review