Hunter researchers have helped develop a ground-breaking technique designed to reduce or delay the need for preventive mastectomies among women at high risk of breast cancer.
According to a study - published today in the US journal Radiology - the non-invasive scanning technology (magnetic resonance spectroscopy) detected a series of biochemical changes in breast tissue, which could provide early warning signs and improve ongoing risk management for women with BRCA gene abnormalities.
Mutations with BRCA1 and BRCA2 bring a 50 per cent risk of developing breast cancer before the age of 50, and many carriers opt to have mastectomies to avoid getting cancer later in life.
Using a technique known as localised correlated spectroscopy (L-COSY), researchers from the University of Newcastle and Brigham and Women's Hospital in Boston identified chemical disparities associated with the pre-invasive cancer state - an early stage of disease development.
"These changes appear to represent a series of early warning signs that may allow women to make informed decisions as to when and if they have a prophylactic mastectomy," the study's lead author Professor Carolyn Mountford, from the University of Newcastle, said.
The researchers performed L-COSY on 23 women with BRCA mutations and compared the results with those from 10 healthy controls who had no family history of breast cancer.
"Approximately half the women who have BRCA mutations may not develop breast cancer at all, and certainly not before they turn 50, so we can advise a significant number of them that, yes, they may need a mastectomy one day . . . but not yet," study co-author Dr David Clark said.
The researchers now aim to expand the trial and will continue to monitor women in the original study group to learn more about the biochemical changes and what they represent.
When Sally Keir was diagnosed with the cancer gene mutation known as BRCA2 she chose to keep her breasts.
Instead of basing her decision on fear, Ms Keir turned to research.
"All the decisions I've made have been based on research-based evidence," she said.
"Because when you get a cancer diagnosis it sort of stuns you, you don't think clearly, so it's very hard to make good, informed decisions in that state."
Ms Keir, 55, is one of 23 women carrying BRCA mutations to take part in a new Australian study.
The Telarah woman was first diagnosed with cancer in 2003 and the BRCA2 gene was detected soon after.
"My mother had had breast cancer and so had my auntie, so it was all close enough for me to be tested," Ms Keir said.
"It turned out I had BRCA2 but the big surprise was that neither my mum or aunt had the gene mutation. My dad had it, so I had inherited it from him."
Eventually, the possibility of a preventive mastectomy loomed.
"It was really good to have evidence-based information so I could find out what was going to be the best option for me and, in my case, if I was super vigilant then I could keep both my breasts," she said.
But for Ms Keir being part of the groundbreaking study is both an honour and a privilege.
"It's wonderful to be able to give back to the scientific community because my decisions have been based on their research," she said.
"And everyday this research is making decision options better and giving us better outcomes."