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New and Improved treatments

Using molecular pathology to identify the best treatments for breast cancer patients

Garvan Institute of Medical Research Professor

Sandra O'Toole

There have been dramatic improvements in the outcome for those with breast cancer over the past 20 years, and the five-year survival is now nearly 90 per cent. However there remain challenges in diagnosing and treating breast cancer.

These challenges include: how to select which patients are likely to benefit from chemotherapy and those who may be safely spared this toxic therapy; predicting which patients with pre-cancerous breast changes will go onto develop invasive carcinoma and those who don’t need surgery and or radiotherapy; how to identify novel treatment approaches for rare types of breast cancer.

The common feature among these issues is the ability to select the best treatment for individual patients. Molecular pathology is an emerging discipline which focuses on the study and diagnosis of disease by examining the molecules within organs, tissues or bodily fluids. This is done using cutting edge techniques, such as advanced genomic sequencing including whole genome sequencing in some cases.

Molecular pathology can play a very important role in better understanding the genetic changes in breast cancers and using that information to help select the optimal treatment for each patient.

In this study, Professor Sandra O’Toole will use these technologies to assess thousands of mutations in cancer genes in breast tumour samples. Her goal is to improve decision-making and treatment options for patients with breast cancer in 3 areas in particular:

  1. Better understanding which types of tumours are more likely to respond to chemotherapy: chemotherapy reduces deaths from breast cancer but it has significant side-effects, and there are few cost-effective tests that can predict which patients are most likely to benefit. Professor O’Toole aims to analyse breast cancer tissues using next generation sequencing from clinical trials to explore predictive tests for whether chemotherapy is likely to be effective.
  1. Understanding why abnormal pre-cancerous cells (called ductal carcinoma in situ) goes onto invasive cancer: Early diagnosis of breast cancer through screening has reduced deaths from breast cancer while also identifying increasing numbers of DCIS that may not always develop into invasive cancer, but which are currently treated with surgery and/or radiotherapy. This study will develop a large collection of DCIS tissues and matched clinical information that can be used to develop tests that may predict which patients need these treatments.
  1. Greater understanding of rare but aggressive types of breast cancer: There are rare but aggressive types of breast cancer, such as malignant phyllodes tumours and metaplastic breast cancer, with few or no effective treatment options if surgery is not successful as they usually do not respond well to chemotherapy or radiotherapy. Professor O’Toole will use new genomic technologies to study these tumours to find new treatment approaches.
Garvan Institute of Medical Research Professor

Sandra O'Toole