Having even a single affected relative is the single biggest risk factor for cancer, and it is now firmly established that common genetic variation plays a role in the predisposition to cancer at the population level. Another focus of research in the laboratory is on the identification of genetic markers involved in predisposition to breast, ovarian cancer or prostate cancer, and prognosis after cancer diagnosis. Secondary to discovery of these genetic markers, laboratory studies are undertaken to discover the biological mechanism through which these genetic markers act.
Current studies include:
- Investigating high-risk breast cancer families, assessing the contribution of Copy Number Variants (CNVs) to disease, an effort led by collaborator Dr Logan Walker.
- Assessing the role of common genetic variation in predisposition or prognosis of breast cancer using large case-control association studies within the framework of the Breast Cancer Association Consortium (BCAC), including collaborative efforts with other researchers at QIMRB (Professor Chenevix-Trench). Analyses include assessment of the effects of endogenous and exogenous exposures on the risk of cancer conferred by variants.
- Identifying low-risk ovarian cancer predisposition genes and variants affecting ovarian cancer survival, following similar approaches, including collaborative efforts with other researchers at QIMRB (Professor Chenevix-Trench & Dr Penny Webb) and extended collaborations within the framework of the Ovarian Cancer Association Consortium (OCAC).
- In collaboration with Dr Jyotsna Batra at the Queensland University of Technology, and the international PRACTICAL consortium (Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome), investigating of the role of common genetic variation in the in prostate cancer predisposition and progression. Our aim is to use genetic markers to develop sensitive and readily-applicable lab-based screening tools for detecting and predicting prognosis of prostate cancer at the time of initial biopsy.
- Identifying common variation that modifies the penetrance of high-risk disease-causing variants in BRCA1 and BRCA2, and thus can account for the fact that families demonstrate variable expression with respect to age at onset, bilaterality, pathology, risk of ovarian cancer, risk of male breast cancer, and risk of other cancers. This is a collaborative study including samples contributed by the Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab) study, and numerous other collaborators participating in the large international consortium CIMBA (Consortium of Investigators or Modifiers of BRCA1 and BRCA2), including collaborator Logan Walker from University of Otago, New Zealand.
(Dr Tracy O’Mara, Dr Dylan Glubb, Dr Jyotsna Batra)