Her mother died at 58 of breast cancer,and her grandfather and his siblings had died of prostate cancer in their 60s,but the system used to determine her risk found Mangan’s was not great enough to qualify for investigation.
Alisha Mangan,with sons Parker,4,and Riley,12,discovered generations of her family had carried a relatively common cancer gene mutation.Edwina Pickles
“My doctor sent me to a genetic specialist,and they basically said even with all your family history – even though my grandfather and his brothers all died of prostate cancer – you’ve got to be a 30 per cent risk to get funded through Medicare,and I wasn’t,” she said.
Mangan and her husband – the parents of three boys – decided to pay the $550 for genetic testing,and the results that came back in April 2023 shocked two generations.
It showed Mangan had inherited a BRCA2 (breast cancer gene 2) mutation,which gives women a far higher chance of developing aggressive breast and ovarian cancer and men an elevated risk of prostate cancer.
The twist was that her 68 per cent chance of breast cancer was due to a mutation inherited from her father,not her mother.
Doctors told Mangan her decision to get tested had saved her life.Edwina Pickles
“My dad was absolutely shocked and said,‘I’m so sorry,darling’. He was in disbelief and assumed the BRCA gene[mutation] was a female kind of thing.”
Within a couple of months,Mangan had her fallopian tubes out and a preventive double-mastectomy,after which it was discovered she had very early stage breast cancer – ductal carcinoma in situ.
“When they came and gave me the news in hospital,they said:‘To think you were humming and ha-ing about this. Don’t ever underestimate your decision – you saved your life’.”
The Mangans were among tens of thousands of Australians who had no idea they carried these relatively common mutations,said Monash University public health researcher Professor Paul Lacaze. They were unaware because there was no widespread screening for the genomic mutations – but there should be,he added.
After Angelina Jolie’s mother died of breast and ovarian cancer,the actor discovered she carried the BRCA1 gene mutation. She opted for preventive surgery to reduce the risk of developing cancer.Shutterstock
Lacaze ran a pilot program last year doing DNA screening and found one in 250 of the 10,000 members of the general population who were screened carried one of the.
He has provided the federal government with modelling,published in medical journal the which shows offering young adults genomic testing would be cost-effective for the healthcare system. There is so much interest among young people in getting tested that there are already 20,000 on the research waiting list.
What those found to carry the mutations did about it could involve harsh medical choices – like Mangan’s – that required far more support,Lacaze said.
He is backing action by the hereditary cancer support group to collect data on how those with cancer in the family tree experience the medical system and what more is needed for them.
Sarah Powell had breast cancer at 29,and subsequently discovered she carried the BRCA1 gene mutation,which pre-disposes her to ovarian cancer. She had her ovaries removed at 38.Supplied
The group’s chief executive,Sarah Powell,developed breast cancer at 29 and subsequently found she carries the BRCA1 mutation. She said there was such a lack of data about who carried the mutations in Australia that it was difficult to ensure they got the right information to help reduce their risk.
“People get a genetic test result and off they go. It’s just the start of a roller coaster of decision-making that can create other issues such as body image and surgical menopause,” she said.
suggests the chance of getting breast cancer for those with the BRCA1 gene mutation – dubbed the Angelina Jolie gene after the actor had a risk-reducing mastectomy due to testing positive to the mutation – is 72 per cent,and it is 69 per cent for those with the BRCA2 mutation,compared with 11.9 per cent in the general population.
Ovarian cancer risk increases to 44 per cent for women with the BRCA1 variant and to 17 per cent for those with the BRCA2 variant,compared with 0.84 per cent in the general population.
In men,carrying the mutation,but it is likely to come on later in life compared with female cancers.
Demand for testing for hereditary cancers is increasing,says Associate Professor Laura Forrest,of the Parkville Familial Cancer Centre,as more people learn what their relatives died from and awareness of inheritable cancers grows.
“We are seeing increasing numbers of referrals from GPs,as people have gone to their GP and said,‘I’m concerned about my family history of cancer’,” said Forrest,who urged people to be inquisitive.
“We really encourage people to know the family history,and to ask questions of the older generations,and if there is any cancer diagnosis,what type?”
Samantha Bowden carries a gene mutation that can make it far more likely a person will get breast,ovarian or prostate cancer.Justin McManus
A history of ovarian cancer,in particular,may be slow to emerge because it has been stigmatised in the past.
“Previous generations weren’t necessarily comfortable talking about women’s cancers. Women were passed off as dying of ‘stomach cancer’,and when we do some clinical digging,we find out grandma died of ovarian cancer,” Forrest said.
Samantha Bowden’s family discovered they carried the BRCA1 gene mutation 11 years after her grandmother died of ovarian cancer at 52,having survived breast cancer.
“It took 11 years to find the gene in Nan’s blood,after medical advances,” Bowden said. “After a positive BRCA1 gene mutation was found in 2015,my aunty was diagnosed with breast cancer twice,my cousin tested positive … and my uncle tested positive.”
Mother and daughter both underwent preventive double mastectomies;her mother had her ovaries removed,and Bowden,34,is scheduled to have the same operation in two weeks.
Even though she had to have her third child,nine-month-old Joey,by IVF,Bowden is adamant that being able to vastly reduce her cancer risk is empowering,and she hopes those with a family history of such cancers will participate in the by Pink Hope,which aims to fill in knowledge gaps.
Pink Hope’s Sarah Powell will present a report based on the survey findings to the government in September.
Many people who carried the gene mutations were waiting too long for preventive surgery in the public system,she said,or paying huge gap fees in the private system even if they had health insurance.
“We have women getting breast cancer while waiting on lists to have a mastectomy,” Powell said. “The waiting list is so long – a woman in one of our groups said she has been waiting three years – that while they’re waiting,they get cancer.”
Alisha Mangan and Bowden are backing the group’s fact-finding effort and hope it will result in increased resources for those whose lives are seriously affected.
“There has to be more support through all this,” Mangan said.
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