Genetics of Colorectal Cancer (CRC)

2019 update:

This project continued to progress well in 2019, with Khalid Mahmood sharing his expertise with the group.

Several significant collaborations have developed across several projects in the laboratory. The focus of these collaborations has been to use genomics and associated clinical data to characterise CRCs to improve screening and diagnostics strategies for patients. Some of the key tasks have been to deploy state of the art bioinformatics methods to analyse germline and tumour genomics sequencing data to characterise different subtypes of CRCs as well as identity new variations and genes that predispose families to higher risk of developing CRC. Work from these collaborations has resulted in several publications under preparation or review. In addition, work has involved supervision of several honours students.


Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome, Georgeson et al, Molecular Genetics and Genomic Medicine.

sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data, Jung et al, International Journal of Molecular Science.


Seminar, University of Melbourne Centre for Cancer Research

Oral presentation, International Conference InSiGHT (International Society for Gastrointestinal Hereditary Tumours).

Project description

The focus of the Colorectal Oncogenomics Group (COG) led by Assoc Prof Daniel Buchanan includes the identification and investigation of clinically and biologically relevant subtype of colorectal cancers (CRC) in both familial and non-familial settings. The analysis involves a wide range of multi-disciplinary techniques ranging from computational biology, epigenetics and genomics to analyse tumour and pre-malignant lesions in terms of their histopathological features. This very successful collaboration covers a range of colorectal cancer projects including those forming part of the University-hosted NHMRC Centre for Research Excellence in Optimising Screening for Colorectal Cancer, whose vision is to create and implement a personalised approach to colorectal cancer screening to reduce the number of new cases and deaths from this common disease.

Project collaborators

Assoc Prof Daniel Buchanan, University of Melbourne

Assoc Prof Bernie Pope, Melbourne Bionformatics

Prof Ingrid Winship, Royal Melbourne Hospital & University of Melbourne

Prof Mark Jenkins, University of Melbourne Centre for Cancer Research

Dr Khalid Mahmood, Melbourne Bioinformatics


This project is supported by significant grants from NHMRC, NIH and Cancer Australia.