A woman who lost her mother to breast cancer after being denied a test for the faulty BRCA1 gene because she didn’t meet NHS criteria has claimed having it a year earlier could have saved her life.
Jess Fine, 21, a health research manager from Hertfordshire, told how mum Joanna, 46, asked to undergo the genetic testing six months after her initial diagnosis.
But due to the fact none of her family members were recorded as having the faulty BRCA1 gene, she was refused – meaning she had to pay out £1,600 to have it done privately.
When she tested positive, Joanna urged her daughter to have it too when she turned 18. After discovering she too is a carrier, Jess is now planning preventative measures including a double mastectomy to avoid the onset of cancer.
Jess Fine, 21, a health research manager from Hertfordshire, lost her mother Joanna (pictured together) to breast cancer after she was denied a test for the faulty BRCA1 gene because she didn’t meet NHS criteria. Jess has claimed having it a year earlier could have saved her life
Joanna sadly passed away in 2017, leaving her husband and three children – Jess, 21, her sister, 31, and 12-year-old brother (pictured as a family)
In memory of her mother, who left behind two other children, Jess is now in the process of setting up the Jo Fine BRCA campaign to raise awareness of the gene and inform people of the preventative solutions.
She told FEMAIL: ‘Having a genetic BRCA test before her cancer manifested would have saved her life, as she would’ve undergone the preventative surgeries and stopped the cancer from developing entirely. It is my mission to prevent others going through what she went through.
‘Ultimately it is my goal to set up a trust fund within the campaign where financial donations will be raised for people to be genetically tested who otherwise cannot afford to do so.
‘It makes me so proud when people notice the stark similarities and resemblance between my mum and I. We had a shared obsession for Disney, the same toothy wide smile and outrageously loud laugh, the same positive energy, and most importantly the same determination and perseverance to help others.’
Jess told how Joanna, pictured on her wedding day, first experienced symptoms when her doctor found a small lump during a yearly routine check up in late 2014
Jess said it makes her very proud when people notice the stark similarities and resemblance between her and her mum (pictured when Jess was younger)
Jess told how Joanna first experienced symptoms when her doctor found a small lump during a yearly routine check up in late 2014.
She was diagnosed with aggressive triple negative breast cancer later that year and underwent multiple rounds of chemotherapies, radiotherapy and full brain radiotherapy.
‘She also tried adopting total lifestyle changes, including a strict organic and chemical free diet. She later had a double mastectomy and hysterectomy,’ Jess explained.
‘She first attempted to undergo NHS BRCA genetic testing six months after her initial diagnosis. She wanted to be proactive and take control of her health and the health of her family, to make sure her children would never have to endure a cancer diagnosis like hers.
In memory of her mother, Jess is now in the process of setting up the Jo Fine BRCA campaign to raise awareness of the gene and inform people of the preventative solutions. Pictured: the family together on holiday
‘She didn’t meet the criteria as she did not have any direct relatives who’d had a related cancer diagnosis, such as breast, prostate or ovarian cancers. So she underwent private BRCA testing in 2015, around nine months after her initial diagnosis, and paid an extortionate price of £1,600.’
When the test came back positive, meaning the faulty gene could have been passed onto her children, Jess said she remembered feeling ‘incredibly confused’.
‘I had never heard of the BRCA gene before, I had only just been exposed to the world of cancer a few months earlier and I had no idea that any cancers were hereditary or genetic,’ she explained.
‘My mum was equally was shocked as although she had heard of BRCA, she couldn’t understand why neither of her parents had ever had cancer.
‘We later realised my grandpa (my mum’s father) had BRCA1, but for him, the gene had never expressed itself so he was unaware he was a carrier.’
When the BRCA1 test came back positive, meaning the faulty gene could have been passed onto her children, Jess said she remembered feeling ‘incredibly confused’
Although Joanna’s cancer did go into remission, its aggressive nature caused it to return three times over three years. But Jess said every knock back made her more determined to live longer to be with her children.
‘Mum fought through her treatment with the most unimaginable strength, resolution and humour. She had an extraordinarily positive outlook on life,’ Jess recalled.
What is the BRCA gene and how does it affect people’s risk of cancer?
Between one in 800 and one in 1,000 women carry a BRCA gene mutation, which increases the chances of breast and ovarian cancer.
Dr Dahlia Hopmeier told FEMAIL: ‘The breast cancer risk is estimated at 60-90 per cent for BRCA1 and 45-85 per cent for BRCA2, and may happen at an earlier age than in the general population.
‘There is a chance of developing a second breast cancer, or cancer in the contralateral breast (estimated at around 50 per cent). The ovarian cancer risk is also elevated to about 40-60 per cent for BRCA1 and 10-30 per cent for BRCA2 mutations throughout the woman’s lifetime.’
Between one in 800 and one in 1,000 women carry a BRCA gene mutation, which increases the chances of breast and ovarian cancer.
Both BRCA1 and BRCA2 are genes that produce proteins to suppress tumours. When these are mutated, DNA damage can be caused and cells are more likely to become cancerous.
The mutations are usually inherited and increase the risk of ovarian cancer and breast cancer significantly.
When a child has a parent who carries a mutation in one of these genes they have a 50 per cent chance of inheriting the mutations.
About 1.3 per cent of women in the general population will develop ovarian cancer, this increase to 44 per cent of women who inherit a harmful BRCA1 mutation.
‘After hours of intensive chemo in the morning she would join me out for lunch and shopping trips as if she had just had a quick check up at the doctors.
‘She was so beautiful inside and out and even when she was very sick she did everything in her power to maintain a normal life, always putting the needs of her family and friends above her own.’
Heartbreakingly, Joanna passed away in 2017 aged 46, leaving behind Jess, her two younger siblings aged 12 and 13, and their father.
‘She really was a fighter,’ Jess said. ‘Even in her last few days she never gave up and was still continuing to research various chemotherapy alternatives. She would do everything in her power to try stay longer with us.’
Jess applied to be genetically tested for BRCA1 in November 2016 and took the test a few days after her 18th birthday the following February.
‘I received the results back in mid-April. I was able to have it done for free but only after showing proof of my mum’s BRCA diagnosis,’ she said.
‘I am a very health anxious person, especially regarding cancer, so I will go to great lengths to be proactive and live a long and healthy life. I have an appointment with a breast surgeon next week [October 8] to start speaking about the process of having a double mastectomy and reconstruction surgery within the next five to 10 years.
‘After I have had children, I plan to undergo a prophylactic bi-lateral salpingo-oophorectomy – the removal of healthy tubes and ovaries – to further eliminate my risk.
‘I am also looking to have regular screening, including yearly breast screening, transvaginal ultrasound (TVUS), and CA-125 blood tests.’
The experience with her mum has encouraged Jess to pursue a career in science; she now works at Myogenes, an advanced molecular diagnostic company centered on personalised health and genetic testing.
‘I definitely think my mum has had a massive influence on the path I’ve taken,’ she told FEMAIL.
‘I graduated from university this year in June and I still was completely unsure of the career path I would take.
‘The idea and opportunity to work with genetics came in a sort of “lightbulb” moment when I was having lunch with family friends this summer in July.
‘We were at Clare’s house – she’s one of the founders of Myogenes – and after she explained her extensive research about personalised medicine and her cancer genetic tests, I immediately knew this was the most perfect job for me, where I could both research and spread awareness for something so close to my heart.’
The Myogenes Hereditary Breast Cancer Test is a competitively priced saliva-based breast cancer risk test.
Jess said her mother was true fighter, adding: ‘Even in her last few days she never gave up and was still continuing to research various chemotherapy alternatives. She would do everything in her power to try stay longer with us’
It can be done in your own home and will tell you whether you have the faulty gene that raises your risk of developing breast, ovarian and prostate cancers.
‘Just like Mum, around 70 per cent of people are unable to access free BRCA testing, according to statistics from Cancer Research UK,’ Jess said.
‘This is why I am extremely excited to have started my new job as a researcher for Myogenes, so I can further support people through raising awareness, offering comprehensive predictive cancer tests and genetic counselling to provide a wider scope of options for people.’
In support of Breast Cancer Awareness Month during October, Mygoenes will be donating 10 per cent from the sale of every Hereditary Breast Cancer Test to the Pink Ribbon Foundation, a grant making trust funding projects and providing financial support to UK charities that support people with or those affected by breast cancer, and those who work to advance the understanding of it, its early detection and treatment.
Jess applied to be genetically tested for BRCA1 in November 2016 and took the test a few days after her 18th birthday the following February. She is now planning preventative measures after testing positive. Pictured with her mum and siblings
Clare Brenner, CEO of Myogenes, said: ‘At Myogenes, we passionately believe that a change is needed in our approach to medicine. Genetic testing should be a first step, paving the way for creating a personalised treatment plan for the patient.
‘The need for change is as evident as ever this October, with Breast Cancer Awareness Month. Having Jess on our team is an honour, she is a wonderful young woman with a moving and inspirational story of the heartache caused by breast cancer.
‘Via genetic testing, Jess was able to take this experience and make proactive and decisive decisions about her health and future. We believe every woman should have the gift of knowledge, which is why we are partnering with the Pink Ribbon Foundation to help raise awareness and funds this year.’
Why are some people eligible for BRCA1 testing while others aren’t?
Dr Dahlia Hopmeier, a Myogenes consultant and genomic medicine clinical fellow at Great Ormond Street Hospital, told FEMAIL: ‘The question on who is eligible for genetic testing is a complex one, and although guidelines exist, the decision is often made on a case-by-case basis.
‘Aspects in the family history that may point towards a familial cancer syndrome include cancers occurring at a younger age than average that affect several family members (and possibly multiple generations on one side of the family).
‘A particular pattern of cancers within a family (such as breast and ovarian cancers) may also be a clue that genetic testing could aid in diagnosis. For individuals with cancer, developing cancers more than once (having more than one primary tumour site) may also point to an underlying genetic cause.’
She added that being aware of carrying this type of genetic variant opens up options for management.
‘In terms of breast cancer risk, the individual will be eligible for additional breast screening, such as MRI and mammography at a younger age than usual, to enable the early detection of cancerous changes,’ she explained.
‘In some cases, prescribing medications that decrease breast cancer risk (also called chemoprevention) may be a possibility. Risk-reducing surgery in the form of prophylactic bilateral mastectomy (the surgical removal of breast tissue before a cancer develops) is another option that reduces breast cancer risk by over 90 per cent.
‘The management of ovarian cancer risk is slightly different, as screening programs have not been shown to be effective. The mainstay of management here is by surgical removal of the fallopian tubes and ovaries, which results in an up to 98 per cent reduction in the risk of developing ovarian cancer.
‘Various factors need to be taken into consideration, such as whether the woman has completed her family planning or whether she has already reached menopause. It is important to remember that the decision to undergo risk-reducing surgery always needs to be balanced against the risks of the procedure itself and the long-term effects on health.
‘Individuals who carry a BRCA variant have a 50 per cent chance of passing it on to each of their children. There are therefore wider implications for their family members, as they may also require testing and management if they are found to carry the gene variant.’
If you have reason to be concerned about your risk of cancer, Myogenes testing can help. Go to www.myogenes.com for more information, call 020 7387 1266 or email firstname.lastname@example.org.