Molecular Cancer Epidemiology

To enhance understanding of genetic variants that cause disease for improved personalised clinical management.

Professor Amanda Spurdle

Senior Group Leader

Research Focus

The Molecular Cancer Epidemiology Laboratory is focused on translational genomics, aiming to increase the impact of genomics in health practice.

The laboratory primarily studies the epidemiology and genetics of breast, ovarian, and endometrial cancer and conditions of inherited cancer risk. Our research identifying molecular signatures of normal and tumour tissue can point to the genetic and environmental causes of these cancers.

Through studying approaches to diagnostic processes and genomic variant interpretation, our lab is improving clinical genomics application for improved patient management for other diseases.

The laboratory covers a range of projects with the themes of clinical genetics, cancer epidemiology and molecular pathology.

Gallery

Research Projects

Current Research Projects

Clinical classification of gene variants in high and moderate risk cancer genes, including BRCA1, BRCA2 and TP53.

Shariant, a platform for sharing vital variant knowledge between laboratories.

Identification of genetic causes of unexplained suspected hereditary cancer predisposition.

Past Research Projects

Australian National Endometrial Cancer Study.

Endometrial Cancer Association Consortium.


Research Team

Michael Parsons

Dr Rehan Villani

Dr Daffodil Canson

Dr Aimee Davidson


Funding

  • National Health and Medical Research Council, various schemes
  • National Institute of Health

Past funding:

  • National Breast Cancer Foundation

Publications

Google Scholar


Further Information



External Collaborations
  • ENIGMA consortium (Evidence-based Network for the Interpretation of Germline Mutant Alleles) enigmaconsortium.org
  • The BRCA Exchange brcaexchange.org
  • InSiGHT (International Society for Gastrointestinal Hereditary Tumours)
  • ClinGen clinicalgenome.org
  • kConFab (Kathleen Cuningham Foundation Consortium for research into familial breast cancer) kconfab.org
  • BCAC consortium (Breast Cancer Association Consortium) http://apps.ccge.medschl.cam.ac.uk/consortia/bcac/
  • OCAC consortium (Ovarian Cancer Association Consortium) http://apps.ccge.medschl.cam.ac.uk/consortia/ocac/
  • CIMBA consortium (Consortium of Investigators of Modifiers of BRCA1/2) http://apps.ccge.medschl.cam.ac.uk/consortia/cimba/
  • ANECS (Australian National Endometrial Cancer Study) anecs.org.au
  • ECAC consortium (Endometrial Cancer Association Consortium) ecac-studies.org
  • E2C2 (Epidemiology of Endometrial Cancer Consortium)
  • Australian Genomics https://www.australiangenomics.org.au/
  • Professor Paul James, Peter MacCallum Cancer Centre
  • Professor Douglas Easton, Cambridge University
  • Associate Professor Logan Walker, University of Otago
  • Associate Professor Alan Rubin, Walter Eliza Hall Institute
  • Professor Sean Tavtigian, University of Utah
  • Professor Fergus Couch, Mayo Clinic