Functional Genetics

The Functional Genetics Laboratory investigates how genetic variants in noncoding regions of the genome contribute to cancer risk and progression. Until recently, the genetic basis of cancer has only been examined in coding regions, which accounts for less than 2% of the human genome. However, it is now apparent that noncoding regions are littered with functional elements such as transcriptional enhancers and long non-coding RNAs. The laboratory focuses on how inherited variants identified through genome wide association studies (GWAS) and cancer specific mutations identified through whole gene sequencing (WGS) can alter these non-coding elements to promote the development of cancer. The ultimate aim is to use genetics to pinpoint the key genes and pathways implicated in the development of cancer to identify new therapeutic opportunities.


  • understanding how common genetic variants associated with cancer risk contribute to cancer development
  • understanding how somatic mutations in tumours contribute to cancer development
  • high throughput mapping of promoter-enhancer interactions to identify new cancer risk genes
  • determining the contribution of long non-coding RNAs to breast cancer risk and progression


  • Dr Maina Bitar, Post-doctoral Scientist
  • Dr Sebastien Jacquelin, Post-doctoral Scientist
  • Kristine Hillman, Research Assistant
  • Susanne Kaufmann, Research Assistant
  • Nehal Abdou, Research Assistant
  • Isela Sarahi Rivera, PhD student

Internal Collaborators

External Collaborators

  • Breast Cancer Association Consortium
  • Associate Professor Alison Dunning and Prof Douglas Easton, Cambridge University
  • Assoc Prof Joseph (Sefi) Rosenbluh, Monash University
  • Dr Melissa Brown, The University of Queensland
  • Cancer Council Queensland
  • National Breast Cancer Foundation
  • National Health and Medical Research Council of Australia
  • Tour de Cure – Riding to Cure Cancer


Evaluation of new long-noncoding RNAs contributing to drug resistance in ovarian cancer

Can be adapted in scope for Honours or PhD project. Epithelial ovarian cancer (EOC) accounts for >90% of ovarian malignancies, but high-grade serous (HGSOC) is the most common (~70%) and lethal subtype. Nearly half of all HGSOCs show defective DNA repair by homologous recombination (HR), which is a pivotal vulnerability that can be therapeutically exploited. […]

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Identifying new long-noncoding RNAs involved in Breast Cancer development

Can be adapted in scope for Honours or PhD project. It is now clear that the majority of the human genome is transcribed from both DNA strands but only 2% encodes protein. Much of this transcription is derived from DNA sequences that do not encode functional proteins. The majority of these transcripts are long non-coding […]

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