Cancer Genetics

Group Leader 

Professor Georgia Chenevix-Trench

Summary

The Cancer Genetics Laboratory investigates why some people get cancer, and how these cancers, particularly those of the breast, ovary and stomach, develop from a normal cell. The laboratory also looks at why these cancers are often found together in the same families and share many similar characteristics.

The laboratory is looking for other genes that might predispose to breast or ovarian cancer, using families from the Australasian consortium of familial breast cancer, kConFab, to identify high-penetrance genes, and case-control studies to identify low-penetrance genes. In addition, the laboratory has recently begun studying an inherited form of gastric cancer which has never previously been described.

The laboratory also has an interest in genes involved in response to chemotherapy in ovarian cancer patients, and have done a genome-wide association study in cases from the Australian Ovarian Cancer Study, with validation in additional cases from the Ovarian Association Consortium.

Conditions researched

• Breast cancer
• Ovarian cancer
• Gastric cancer

Current research

• Next generation sequencing approaches to finding novel breast cancer susceptibility genes
• Genes involved in resistance to chemotherapy in patients with ovarian cancer
• Germline variation underlying individual differences in risk of breast and ovarian cancer
• Evaluation of the role of the telomerase gene, TERT, in susceptibility to breast and ovarian cancer
• Somatic mutations in basal-like breast tumour, and in brain metastases
• Using genomic characterisation of familial breast tumours to identify sporadic breast tumours likely to respond to targeted therapies
• Identification of the gene for gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS syndrome) by exome and genome sequencing

Staff

Laboratory Head: Professor Georgia Chenevix-Trench

Postdoctoral staff: Jonathan Beesley, Sharon Johnatty, Jun Jun Li, Darrell Bessette

Project Manager: Sue Healey

Data Manager: Helene Holland

Research Assistants: Xiaoqing Chen

Funding

We gratefully acknowledge the support of the following funding agencies:

• National Health and Medical Research Council of Australia
  
• National Breast Cancer Foundation
• Department of Defense (USA)
• Susan G Komen Foundation (USA)

Collaborators

Dr Kum Kum Khanna, Signal Transduction Laboratory QIMR

Professor Sunil Lakhani, The University of Queensland

kConFab, The Kathleen Cuningham Foundation Consortium for research into Familial Breast Cancer

Dr Amanda Spurdle, Molecular Cancer Epidemiology, QIMR

Breast Cancer Association Consortium

Consortium for Investigators of Modifiers of BRCA1/2 (CIMBA)

Professor David Bowtell, Peter MacCallum Cancer Institute

Professor Adele Green, Cancer and Population Studies, QIMR

Associate Professor Penny Webb, Gynaecological Cancer Group, QIMR

Dr Anna DeFazio, Westmead Hospital

Dr James Flanagan, Imperial College, London

Ovarian Cancer Association Consortium

Consortium of Investigators of Modifiers of BRCA1/2

Dr Anna DeFazio, Westmead Hospital

Associate Professor Stuart Macgregor, Statistical Genetics Group, QIMR

Professor Michelle Haber, Children’s Cancer Institute of Australia, Sydney