We care for people affected by cancer

7 September 2023

ABC’s Australian Story has highlighted the work being done by researchers at Peter Mac to identify more genetic links to breast cancer.

This week’s episode shares the journey of sisters Erica Packer and Jo Hunter who have a family history of breast cancer but do not carry BRCA 1 or BRCA 2 gene mutations.

Jo was diagnosed with breast cancer at age 39 and Erica is well aware that most of the women on her mother’s side have died from the disease. But the link between the relatives and the cause of the cancer is yet to be identified.

The Director of the Parkville Familial Cancer Centre at Peter Mac, Professor Paul James, said new information is becoming available about the genetic links to breast cancer.

“Ten years ago we knew about BRCA 1 and BRCA 2 and they are still the most important genes when it comes to breast cancer,” Professor James said.

“Recently, the list of genes that can contribute to breast cancer has started to grow and we can now offer a test for 8 – 10 different genes that are involved in the risk of breast cancer.”

Research led by Peter Mac’s Professor Ian Campbell in collaboration with Professor James is using the latest DNA sequencing technology together with clinical and biological information to look for new types of mutations that drive familial breast cancer risk.

The National Breast Cancer Foundation-funded research is taking the genes of more than 60,000 women with unexplained familial breast cancer and comparing these with the genes of healthy women.

“Our goal is to expand the number of gene mutations known to contribute to familial breast cancer risk and, in doing so, help more people to understand why cancer occurs in their family so that they can access now well-established pathways to reduce their risk," Professor James said.

While more research is needed before this information can be used in the clinic, Prof James and Campbell have identified over 40 suspect gene mutations and associations that may contribute to familial cancer risk.

“The major drivers of familial breast cancer risk – mutations in the BRCA1 and BRCA2 genes – were identified in the 1990s and they were relatively easy to spot because they affect a wide number of families,” Professor Campbell said.

“We now have the power to search for genetic drivers of familial breast cancer risk that will be much rarer in the population, and we expect there may be many dozens of these, and each will be responsible for increasing breast cancer risk in only a small number of families.”

You can watch the latest episode of Australian Story on the ABC website.