Belmont woman with BRCA1 mutation in clinical trial

Megan Daniel is set to have her ovaries removed in coming months, and is on a waitlist for a preventive mastectomy and reconstructive surgery due to the BRCA1 gene mutation.

Megan Daniel and her daughter Ivy. Picture: Alan Barber

A Belmont woman with a gene mutation that means she is more susceptible to breast cancer is participating in research which hopes to help prevent the disease.

Megan Daniel, 39, will have her ovaries removed in coming months, and is on a waitlist for a preventive mastectomy and reconstructive surgery due to the BRCA1 gene mutation.

The mutation is associated with about 70 per cent risk of developing breast cancer and 40 per cent for ovarian cancer over the course of a lifetime, according to research organisation Breast Cancer Trials.

“I’m probably more nervous about my ovaries (being removed), because that will trigger menopause,” Mrs Daniel said.

She got tested for the BRCA1 mutation after her sister was diagnosed with stage three breast cancer aged 32 in 2019.

Mrs Daniel said finding out about the mutation was both shocking and expected.

Their mother was diagnosed with breast cancer about 20 years ago.

She had one breast removed and reconstructed.

She is now undergoing treatment after cancer recurred in the other breast, which has now also been removed.

Their maternal grandmother, who died last year at 92, survived the disease when she was younger.

Megan Daniel. Picture: Alan Barber

Mrs Daniel said her children, a 7-year-old daughter and 4-year-old son, could not be tested until they are 18.

Men who have the mutation have a higher risk of developing certain cancers, including prostate, pancreatic, and breast cancers.

Mrs Daniel is taking part in a world-first breast cancer prevention study for BRCA1 mutation carriers underway in seven countries including Australia.

Geoff Lindeman, based out of The Walter and Eliza Hall Institute of Medical Research, said due to their increased risk, women carrying a faulty BRCA1 gene were advised to undergo yearly screening with breast MRIs and/or mammograms.

“This is helpful for early detection but does not prevent breast cancer,” Prof Lindeman said.

“Currently the only effective prevention is to undergo mastectomy with breast reconstruction, which most women understandably don’t undertake.

“Our research hopes to find safe and effective prevention strategy that can delay or even avoid the need for mastectomy.”  

Through National Breast Cancer Foundation funded research, Prof Lindeman and his team identified a protein, RANKL, which is involved in the development of breast cancer in BRCA1 mutation carriers.

Targeting RANKL may represent a novel prevention strategy for people carrying these mutations.

The research found an inhibitor of RANKL, called denosumab, has the ability to switch off culprit cells that give rise to breast cancer, with potential to prevent breast cancer.

A large global clinical trial, called BRCA-P, will test the effectiveness of denosumab as a prevention drug in BRCA1 mutation carriers.

Mrs Daniel said the study meant she had an injection every six months, which is either denosumab, which is an osteoporosis drug, or a placebo.

She said she was three years into the five year trial, which she participates in at the Peter MacCallum Cancer Centre.

“Seeing what my sister went through first hand, she had a six-month-old baby at the time, I really wanted to try and prevent that from happening to anyone else,” she said.

Regular checks through the study also motivated her to join the trial.

The trial is open to women with a BRCA1 gene mutation who have not had their breasts removed.

Mrs Daniel also took part in an ovarian cancer clinical trial at the Peter MacCallum Cancer Centre for people with the gene mutation.

The BRCA-P trial is being led by Breast Cancer Trials in Australia.

October is Breast Cancer Awareness Month.

Originally published as Belmont woman with BRCA1 mutation in clinical trial