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Molecular Cancer Epidemiology

Professor Amanda Spurdle

Group Leader

The Molecular Cancer Epidemiology Laboratory studies the epidemiology and genetics of breast, ovarian, and endometrial cancer. Our research is focussed on identifying molecular signatures of normal and tumour tissue that can point to the genetic and environmental causes of these cancers, and identify new targets for drug therapy. The laboratory covers a range of projects with the themes of clinical genetics, cancer epidemiology, molecular pathology, genome-wide analyses and drug development.

CURRENT RESEARCH

  • Australian National Endometrial Cancer Study (ANECS) & the Endometrial Cancer Association Consortium (ECAC)
  • clinical classification of gene variants in high and moderate risk cancer genes, including BRCA1, BRCA2 and TP53
  • breast, ovarian and endometrial cancer predisposition and prognosis
  • genome-wide association and functional genomics studies of gynaecological cancer
  • identification of gynaecological cancer predisposition genes and novel drug targets
  • implementation of genomic testing into patient care – Australian Genomics activities

Staff

  • Aimee Davidson, Research Officer
  • Cristina Fortuno, Research Officer
  • Daffodil Canson, Research Officer
  • Emma Tudini, Shariant Project Co-ordinator
  • Grace Pendlebury, Shariant Project Officer
  • Johanna Hadler, Research Assistant
  • Maddison McKenzie, Research Assistant
  • Marie-Jo Brion, Project Officer
  • Marissa Chow, Visiting Student
  • Michael Parsons, Research Assistant
  • Natalie Fitch, Masters Student
  • Nitsan Rotenberg, Scientific Technical Officer
  • Rehan Villani, Research Officer
  • Sharon Johnatty, Research Officer

Internal Collaborators

External Collaborators

  • ANECS (Australian National Endometrial Cancer Study) anecs.org.au
  • ECAC consortium (Endometrial Cancer Association Consortium) ecac-studies.org
  • 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/
  • E2C2 (Epidemiology of Endometrial Cancer Consortium)
  • AGHA (Australian Genomics Health Alliance) https://www.australiangenomics.org.au/
  • Professor Douglas Easton, Dr Alison Dunning & Professor Paul Pharoah, Cambridge University
  • Professor David Goldgar & Professor Sean Tavtigian, University of Utah
  • Associate Professor Logan Walker, University of Otago
  • Professor Grant Montgomery, The University of Queensland
  • Associate Professor Jyotsna Batra, Queensland University of Technology
  • Professor Wilbert Zwart, Netherlands Cancer Institute
  • Associate Professor Jason Gertz, Huntsman Cancer Institute
  • Professor Hugo Vankelecom, KU Leuven University
  • National Health and Medical Research Council
  • Cancer Australia

STUDENT PROJECTS

Expanding genetic diagnoses into non-coding regions of the genome

This project is suitable for Honours, Masters, MPhil, MD. Background A molecular diagnosis informs many aspects of treatment for a patient with an inherited condition, however current techniques provide a diagnosis in only around 25% of cases. Non-coding regions of the genome remain underrepresented in clinical cases and variants in these regions are therefore a […]

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Evaluation of pharmacogenomics variants from genome sequencing data

Honours and/or flexible for clinical students. Despite demonstrated clinical utility and continual decreases in sequencing costs, pharmacogenomics testing in Australia is limited. Although carrier rates vary, it is estimated that up to 99% of individuals tested will carry at least one actionable pharmacogenomics variant. The project will aim to identify pharmacogenomics variants from the next-generation […]

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Evaluation of variants in known or candidate high-risk cancer genes

Can be adapted in scope for Honours or PhD. BACKGROUND Panel gene testing is increasingly applied to identify the underlying genetic cause of cancer in patients with suspected hereditary cancer. Identification of a pathogenic variant directly influences clinical management for patients and their at-risk relatives, setting the path for preventative and increasingly chemotherapeutic options. Unfortunately, […]

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