QIMR Berghofer looks at the genetics of breast cancer risk. It is hoped that this research will help assess a person’s risk of developing cancer, so early surveillance or preventative measures can be taken in high risk familial scenarios.
To uncover true genetic discoveries, researchers need a lot of data. QIMR Berghofer plays an integral role within the international collaboration the Breast Cancer Association Consortium (BCAC).
The BCAC has a collection of 230 000 blood samples from women who have had breast cancer as well as unaffected women, making it possible to analyse the DNA from these blood samples from the two groups of women.
Our researchers count the number of times a specific DNA change is seen in the samples of the breast cancer patients versus the unaffected women. 150 markers have been found using this comparison. Using statistical analysis we then put a value on the amount that the combined effect of these DNA changes contributes to an individual’s risk of developing breast cancer, relative to the known lifetime risk.
By using this “polygenic risk score” in a high risk family setting (for example, where there is a mutation in the BRCA1 gene), there is promise for improved assessment of personalised risk of breast cancer. This paves the way for more effective patient treatment decisions in the future, such as additional screening or early surgical interventions.
Research featured conducted by: Dr Jonathan Beesley, Cancer Genetics Laboratory
“With additional funding, we could scale up our lab-based experimental analysis of the 150 breast cancer risk markers. We’re currently making meaningful inroads into the list, though it’s slow going. Stepping up the pace needs investment in new technologies to increase the throughput of the experimental pipeline.” — Dr Jonathan Beesley, Cancer Genetics Laboratory
Infographic statistics: Breast Cancer Network of Australia, bcna.org.au