On Tuesday, 30-year-old Jessica Braude will undergo a bilateral mastectomy.
It's been a little over a year since she was told she carried one of the high risk breast cancer gene mutation BRCA2 , over six months since she was diagnosed with triple negative breast cancer, and a few weeks since she finished the last of a gruelling 16 weeks of chemotherapy.
The social worker was buffeted with shock after shock. Then came the waves of decisions, compounded by the upending of her well-laid plans.
She had just moved to Singapore with her fiance and begun her master's degree, only to find herself back home with her family in Lane Cove while she underwent treatment.
Her seven-millimetre tumour was removed in July, and a round of IVF preserved six embryos before she started chemotherapy.
At least 5 per cent of women who develop breast cancer have a high-risk breast cancer gene.
Roughly 30 to 60 per cent of BRCA1 or BRCA2 carriers will develop breast cancer in their lifetime, compared to an estimated 12 per cent of women in the general population, according to Cancer Australia figures.
Ms Braude knew there was a chance she carried a BRCA mutation. Her paternal grandmother died of breast cancer when she was 34.
"I never in a million years thought that if I did get breast cancer it would come on so quickly, at such a young age," Ms Braude said.
"If I hadn't been tested [for the BRCA mutation] I wouldn't have known to get screened. The tumour was so small I wouldn't have been able to feel it.
"Now I just want it over," she said of her bilateral mastectomy.
"The anticipation is worse than doing it ... I don't want to dwell on the impact it will have on my body image or that it means I won't be able to breastfeed children," she said.
"My health has to come first and the medical advice has been to get it done."
There's an insidious foreboding among many women who are told they have a BRCA mutation. The feeling that the genetic root of their cancer might also mean a worse prognosis.
The results of a major new study may allay those fears, showing there was no difference in the overall survival rates between young women who had a BRCA mutation, and those who did not.
"It's really reassuring news for anyone in my situation," Ms Braude said.
"Maybe knowing this would make the shocks [of being told you have a mutation and breast cancer] easier to cope with," she said.
Roughly 97 per cent of BRCA carriers were alive two years after diagnosis compared to 96.6 per cent for women without a mutation, found the POSH study of 2733 women (18 to 40) who had recently been diagnosed with breast cancer and had undergone initial treatment between 2000 and 2008 in the UK.
Five-year survival was 83.8 versus 85 per cent and 10 years was 73.4 per cent versus 70.1 per cent for BRCA carriers and non-carriers respectively, according to the largest prospective study of its kind published Friday in The Lancet Oncology.
BRCA carriers accounted for 12 per cent of the women in the study. Almost 90 per cent underwent chemotherapy, 49 per cent had breast-conserving surgery and 50 per cent had a mastectomy.
Fran Boyle, Professor of Medical Oncology at the University of Sydney, said there was often a sense among patients that "if something has a genetic case it must be worse".
"But this research shows it's not the case," said Professor Boyle, who is also the director of the Patricia Ritchie Centre for Cancer Care and Research, Mater Hospital.
BRCA carriers were often offered double mastectomies, or surgery to remove their fallopian tubes and ovaries after their diagnosis and initial treatment to reduce the risk of developing new cancers.
The findings also suggested these patients delaying additional surgery by one to two years to recover from initial chemo or surgery is not likely to affect their chances of survival.
But they stressed risk-reducing surgery would be beneficial for BRCA mutation carriers.
Mrs Braude said her treatment team gave her the support and time to feel comfortable with her treatment choice.
"A lot of women I talk to still feel a psychological pressure that their cancer is still inside them, which might be a driver for making rushed decisions," she said.
Professor Boyle said it was not uncommon for women with recent cancer diagnoses to feel pressured to make act quickly.
"So long as women are treated appropriately and are safe there is no crashing hurry ??? they need to be given the space to get as much information as they can and not feel like they need to do it all at once," she said.
She recommended young women with breast cancer be tested for the mutations, and if they are carriers, for their immediate female relatives to undergo testing.
Women with a family history of breast and ovarian cancer now have free BRCA1 and BRCA2 genetic testing, after the federal government introduced new Medicare rebates on November 1.
Professor Boyle urged women to talk to their families about their breast cancer history and to use Cancer Australia's Risk Calculator to assess whether they would benefit from genetic testing.
Pink Hope founder Krystal Barter said many women who contact the support organisation are young and have aggressive breast cancers, but did not find out they had a mutation until after they were diagnosed.
"It's the story for so many women I speak to and we're trying so hard to change that," Ms Barter said, whose organisation has also developed a risk calculator.
"Studies like this give us hope for treatment and show the treatments have evolved and are working."
Ms Barter said it was imperative that family members discussed their family cancer histories, especially early onset cancers, and undergo genetic testing if they were at risk.
"The importance of being in control of your health and knowing your risk cannot be underestimated," she said, stressing early detection needed to be the priority.
The study authors said the risk-reducing surgeries should be discussed as an option for BRCA1 mutation carriers in particular to minimise their future risk of developing a new breast or ovarian cancer.
Decision about timing should take into account individual patient prognosis and their personal preferences, they said.
Triple negative survival benefit
The study also found women with triple negative breast cancer - an aggressive difficult-to-treat subtype where cells do not have receptors for oestrogen, progesterone or the HER2 protein - may have better overall survival at two years than women not carrying the mutation (95 per cent versus 91 per cent). But survival was similar at five and 10 years.
One plausible theory was that the triple negative cancers were more chemotherapy sensitive, Professor Boyle said.
"We think because chemotherapy causes damage to DNA, and if you can't repair DNA properly because you have a BRCA mutation then the chemo should work better.
"It's another reassuring piece of news for these patients," she said.