A Study of Twins and Sisters for Predicting Breast Cancer Risk from Mammograms

Project Details

Mammograms contain information that can predict breast cancer risk. Researchers at the University at Melbourne in the BRAIx program, with partners St Vincent’s Institute of Medical Research, BreastScreen Victoria, St Vincent’s Hospital Melbourne, and the Australian Institute of Machine Learning at the University of Adelaide, achieved a breakthrough in breast cancer risk prediction.

The team discovered that specific features on a digital mammogram, when read by AI models, generate a novel risk score (BRAIx Risk Score) that predicts breast cancer risk better than all known genetic factors.

Now a global team of researchers from MyBRISK at the University of Melbourne, and universities in Australia, Korea, Malaysia and Colombia are investigating the genetic and lifestyle-related factors that underly the BRAIx Risk Score, and if and how these factors cause breast cancer.

The project, A Study of Twins and Sisters for Predicting Breast Cancer Risk from Mammograms, is using the twin family study design to provide information about both genetic and non-genetic factors.

Digital mammograms, blood samples and personal information (family history, lifestyle) will be collected from 1,000 twins and sisters whom they have previously studied, and from a further 1,000 twins without breast cancer, and an additional 100 twin pairs affected by breast cancer.

By using an innovative approach and state-of-the-art technologies, the project is aiming to produce new findings about what causes breast cancer and how to improve screening and lower breast cancer mortality.

Researchers

The project’s Chief and Associate Investigators are:

• Founder, The Late Professor John Hopper, Head of MyBRISK CRE, University of Melbourne
• Doctor Sue Malta, Senior Research Fellow and Project Manager of MyBRISK CRE
• Dr Lucas Calais Ferriera, Senior Research Fellow, University of Melbourne
• Associate Professor Michelle Reintals, Clinical Director and Head, Radiology, BreastScreen South Australia
• Professor Melissa Southey, Chair of Precision Medicine, School of Clinical Sciences, Monash Health, Monash University
• Professor Enes Makalic, University of Melbourne
• Associate Professor Robert MacInnis, Epidemiology Division, Cancer Council Victoria
• Associate Professor Shuai Li, University of Melbourne
• Professor Joohon Sung, Department of Epidemiology, Seoul National University, Korea
• Dr Maxine Tan, Monash University Malaysia
• Professor Said Pertuz, Director, Connectivity and Signal Processing Research Group, Industrial University of Santander
• Gerda Evans, consumer representative
• Heather Worland, consumer representative

Collaborators

The University of Melbourne, BreastScreen South Australia, Monash University, Cancer Council Victoria, Seoul National University, Industrial University of Santander, and breast cancer community representatives.

Funding

Funded by the National Breast Cancer Foundation