Southey laboratory: Genetic epidemiology laboratory


Research Overview

Melissa has a track record in both molecular diagnostic pathology and molecular genetic research. Her research programs are focused on characterizing the genetic and epigenetic factors responsible for cancer predisposition and progression, including familial aggregation of cancers. She leads a large active team of researchers, and in parallel, has numerous national and international productive collaborations. Significant focus is placed on the common cancers (breast, colorectal and prostate cancer) utilizing PEDIGREE's mature population-based studies and the application of new genetic technology. She leads well advanced studies using highly selected multiple-case families that are applying massively parallel sequencing to identify new "high risk" breast and prostate cancer susceptibility genes, has recently led the formation of an international consortium COMPLEXO that aims to pool data to expedite discoveries in this area and has worked to define modes of translation of new genetic information into clinical practice.  Her team has substantial activities based on Methylation-Wide Association Studies (MWASs) utilizing the resources of the Melbourne Collaborative Cohort Study that are working to identify epigenetic risk factors for cancer.  These initiatives are working towards improving the healthcare outcomes for individuals at high risk of cancer and providing the foundation for the emerging "Precision Public Health" era.

The laboratory has a state-of-the-art genomics facility for high density and high throughput molecular genetic research, facilities for molecular pathology, and extensive biorepository and bioinformatic capabilities to support a broad range of molecular genetic research based in large population-based studies of disease.

Our research programs are focused on characterising the genetic and epigenetic factors responsible for cancer predisposition and progression, including familial aggregation of cancers. We are an active team of Melbourne-based researchers, and in parallel, have numerous national and international multidisciplinary collaborations. Significant focus is placed on breast, colorectal and prostate cancers in our research and we work productively with clinical colleagues to improve personal cancer risk assessment, actively translating this new genetic information to improve health outcomes for all Australians.

  1. Methylation as a risk and prognostic factor for common cancers
  2. Identification and characterisation of cancer predisposition genes
  3. Translation of new genetic information into clinical genetics services

PEDIGREE: Research Resources

[PEDIGREE website(external)]

PEDIGREE (Pathology, Epidemiology, DNA, Informatics & Genetics: a Research Enabling Enterprise) is a resource of 100,000 people, 20,000 cancer families, 1,000,000 bio-specimens, data, researchers and community representatives established to conduct collaborative research on cancer. It provides a research platform for studying the genetic and environmental causes of some of the common cancers that affect Australians, using novel population-based family designs, complemented by multiple-case families ascertained through clinics and/or the community. It brings together facilities with similar purposes across the nation and has existing ties to international research consortia. It's accessible, in collaboration, to scientifically meritorious and ethically approved Australian and international research proposals. It's supported by several major institutions and has a transparent, accountable and adaptable governance system.

PEDIGREE governs the use of the following resources.

  1. Health 2020/The Melbourne Collaborative Cohort Study
  2. The Australian Prostate Cancer Family Register (APCFR):
  3. The Australian Breast Cancer Family Registry (ABCFR)
  4. The Australasian Colorectal Cancer Family Register (ACCFR)

If you're a researcher interested in collaborating with PEDIGREE, or want to know what the data is used for in more detail, visit the PEDIGREE website.

Key Collaborators


Professor John Hopper, University of Melbourne [ CEB, UoM]
Professor Graham Giles, Cancer Council Victoria [ CEC, CCV]
Professor Mark Jenkins, University of Melbourne [link to CEB, UoM]

Dr Bernard Pope, VLSCI and Computer and Information Systems
Professor David Goldgar, University of Utah, USA
Professor Ingrid Winship, University of Melbourne and Melbourne Health
A/Professor Andrew Lonie, University of Melbourne
Professor Sean Tavtigian, University of Utah, USA
A/Professor Susan Ramus, University of Southern California, USA
Professor Fergus Couch, Mayo Clinic, USA
Dr Roger Milne, Cancer Council Victoria [ CEC, CCV]
Dr Fabienne Lesueur, INSERM, France
Associate Professor Amanda Spurdle, Queensland Institute of Medical Research [ QIMR]

Collaborative Consortia:



Senior Research Fellows

Dr Daniel Buchanan (Head, Oncogenomics Group | Bio)
Dr Daniel J Park (Head, Genomic Technology Group)

Research Fellows

Dr Mark Clendenning [See Bio]
Dr Eric Joo [Link to bio]
Dr Tu Nguyen-Dumont [Link to bio]
Helen Tsimiklis (Manager, GEL Biorepository)
Dr Ee Ming Wong [Link to bio]

Senior Research Assistants

Catherine Chatfield
Fleur Hammet

Research Assistants

Sonia Aithal
Anke Grabosch-Meehan
Maryam Mahmoodi
XX – Research Manager TBA
XX – TBA (Histologist)

Technical Assistant

Mark Fernando


Stine Erikson [Oncogenomics Group]

Roger Li [Genomic Technology]
Tatiana Hitchen
Melissa Yow


National Health and Medical Research Council (Australia)

Senior Research Fellowship M Southey

Project Grants

Identifying The Missing Heritability Of Breast Cancer
High Risk Genes For Prostate Cancer
Methylation As A Risk Factor For Prostate Cancer
Translation of PALB2 Genetic Information Into Breast Cancer Clinical Genetic Services
Early Onset Colorectal Cancer
Methylation of DNA and colorectal cancer

Centre for Research Excellence

Centre for Translational Pathology Research and Training
Centre of Research Excellence for reducing the burden of colorectal cancer by optimising screening: evidence to clinical practice

National Institute of Health (USA)

Australian Breast Cancer Family Registry Cohort (CEC)
Colon Cancer Family Registry Cohort (CEC)
A comprehensive approach to breast cancer susceptibility across the risk spectrum. (RO1)

Cancer Australia/NBCF

High risk genes for childhood cancer: using massively parallel sequencing to identify cancer susceptibility
High Risk Genes for Lobular Breast Cancer
Germline Copy Number Variants as Risk Factors for Familial Colorectal Cancer

Susan G. Komen for the Cure

Postdoctoral Research Fellowship

Cancer Council Victoria

Identification of the breast cancer susceptibility gene on chromosome 4 with next generation sequencing
Mouse phenotype-driven breast cancer risk gene discovery

Research Projects

This Research Group doesn't currently have any projects

Faculty Research Themes


School Research Themes

Cancer in Medicine

Key Contact

For further information about this research, please contact Head of Laboratroy Professor Melissa Southey

Department / Centre

Clinical Pathology

Unit / Centre

Southey laboratory: Genetic epidemiology laboratory

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