Buchanan laboratory: Oncogenomics (colorectal cancer)

Research Overview

Associate Professor Daniel Buchanan leads a multidisciplinary team spanning molecular genetics and cell biology, bioinformatics, pathology, biobanking, epidemiology and clinical genetics.  The group leads a number of large, well-characterised and internationally unique CRC and polyposis cohorts including: 1) The ANGELS study (Applying Novel Genomic approaches to Early-onset and suspected Lynch Syndrome colorectal and endometrial cancers), 2) The Genetics of Colonic Polyposis Study (GCPS), 3) Sebaceous skin lesions and Lynch syndrome (Muir-Torre Study) and 4) The Australasian Colorectal Cancer Family Registry (ACCFR).

The group’s key research areas include:

  1. Identifying novel genetic risk factors for CRC and colonic polyposis through genome-wide approaches including whole genome sequencing and the translation of new genetic findings into clinical testing for improved patient/family management, including the development of approaches to classify the pathogenicity of rare genetic variation in CRC and polyposis susceptibility genes.
  2. Improving diagnostic approaches for Lynch syndrome and other hereditary colorectal and endometrial cancer syndromes.
  3. Elucidating the aetiology and pathways of tumourigenesis to:
    1. determine risks of malignant potential or risks of metachronous neoplasia
    2. improve early detection
    3. facilitate personalised prevention of colorectal cancer through genomic profiling of normal, premalignant and malignant colon tissue

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Dr Mark Clendenning – Laboratory Manager and Research Fellow
Dr Ji-Hoon (Eric) Joo – Research Fellow
Dr Harindra Jayasekara – Research Fellow
Dr Khalid Mahmood – Research Fellow
Sharelle Joseland – ANGELS and GCPS Study Co-ordinator
Susan Preston – Research Assistant
Julia Como – Histologist
Peter Georgeson – PhD candidate
Romy Walker – PhD candidate
Associate Professor Christophe Rosty – Honorary Senior Research Fellow
Associate Professor Bernard Pope – Honorary Senior Research Fellow
Dr Bryony Thompson – Honorary Research Fellow
Dr Ryan Hutchinson – Research Fellow
Chris Cotsopoulos – Laboratory Technician – Research Support
Waqas Ahmad – Honours Student
Emma Anthony – Masters Student (Public Health)
Dr Simin Daneshvar – Honorary Research Fellow
James Chan – Honorary Researcher
Will Crozier – Honorary Researcher


Professor Ingrid Winship
Dr Bernard Pope
Professor Mark Jenkins
Associate Prof Christophe Rosty
Professor Finlay Macrae
Dr Aung Win
Dr Mark Clendenning
Dr Abiramy Ragunathan
Associate Prof Amanda Spurdle

Genetics of Colonic Polyposis Study
Professor Susan Parry
Professor Finlay Macrae
Professor Ingrid Winship
Dr Kevin Sweet
Professor Steven Gallinger

Muir-Torre Study
Professor Ingrid Winship
Dr Michael Walsh
Dr Aung Win

Genetic Epidemiology of Colorectal Cancer Consortium (GECCO)
Professor Riki Peters
Dr Tabitha Harrison

Detecting heritable mutations in post cholecystectomy pain and recurrent pancreatitis – under diagnosis of LPAC disease
Professor Andrew Metz
Dr Andrew Trinh

Colon Cancer Family Registry Cohort
Professor Mark Jenkins
Professor Steve Gallinger
Professor Graham Casey
Professor Steve Thibodeau
Professor Laney Lindor
Professor Loic Le Marchand
Professor Polly Newcomb
Professor Jane Figueiredo
Dr Aung Win
Ms Maggie Angelakos
Ms Allyson Templeton

Melbourne Collaborative Cohort Study
Professor Graham Giles
Associate Professor Roger Milne
Professor Dallas English

Professor Ingrid Winship
Professor Mark Jenkins
Professor Melissa Southey
Professor John Hopper
Professor Graham Giles
Associate Professor Roger Milne


Expanding diagnostic approaches for Lynch syndrome

Funding source: National Health and Medical Research Council (NHMRC ID:1125269)
Funding type and period: NHMRC Project Grant – 2017 - 2019
Investigators: Dr Daniel Buchanan (CIA), Prof. Ingrid Winship (CIB), Assoc. Prof. Amanda Spurdle (CIC), Dr Aung Ko Win (CID), Dr Bernard Pope (CIE), Assoc. Prof. Christophe Rosty (CIF), Prof. Finlay Macrae (CIG).  AIs – Prof Mark Jenkins, Assoc. Prof. Gillian Mitchell, Dr Nick Pachter, Assoc. Prof. Alison Trainer, Dr Rachel Susman, Dr Kathy Tucker, Dr Kathy Wu, Ms Beth Fairbank (community representative)
Amount: $1,269,435.70 total

Genomic profiling for the prevention of colorectal cancer

Funding source: National Health and Medical Research Council (NHMRC ID:1125268)
Funding type and period: NHMRC Career Development Fellowship (level 1) – 2017 - 2020
Investigators: Dr Daniel Buchanan
Amount: $425,048

Muir Torre Syndrome: The role of IHC and genotyping in sebaceous neoplasia to facilitate prevention strategies in colorectal and endometrial cancer

Funding source: National Health and Medical Research Council (NHMRC ID:1108797)
Funding type and period: NHMRC Project Grant – 2016 - 2017
Investigators: Prof. Ingrid Winship (CIA), Dr Daniel Buchanan (CIB), Assoc. Prof Michael Walsh (CIC), Dr Aung Ko Win (CID)
Amount: $351,786

University of Melbourne Research @ Melbourne Accelerator Program (R@MAP)

Funding type and period: University salary and research support D Buchanan – 2014 - 2018
Amount: $750,000 / total five years

Research Publications

Joo, J.E. et al. Assessing the ProMCol classifier as a prognostic marker for non-metastatic colorectal cancer within the Melbourne Collaborative Cohort Study. Gut (2018).

Buchanan, D.D. et al. Corrigendum: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. Genet Med (2018).

Win, A.K. et al. Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer. Cancer Epidemiol Biomarkers Prev 26, 404-412 (2017).

Jayasekara, H. et al. Risk factors for metachronous colorectal cancer or polyp: A systematic review and meta-analysis. J Gastroenterol Hepatol 32, 301-326 (2017).

Jayasekara, H. et al. Lifetime alcohol intake is associated with an increased risk of KRAS+ and BRAF-/KRAS- but not BRAF+ colorectal cancer. Int J Cancer 140, 1485-1493 (2017).

Buchanan, D.D. et al. Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. Genet Med (2017).

Buchanan, D.D. et al. Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study. Gut 66, 1170-1172 (2017).

Buchanan, D.D. et al. Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts. J Gastroenterol Hepatol 32, 427-438 (2017).

Win, A.K. et al. Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. Int J Cancer 139, 1557-63 (2016).