After her mother’s breast cancer diagnosis at the age of 42, Ellie Sullivan spent more than a decade fearing that one day she too would develop the disease.
‘I always suspected that because my mum developed cancer so young it was caused by a genetic fault – one that I was likely to have inherited,’ says Ellie, who owns a beauty salon in Broadway, near the Cotswolds village where she lives.
‘Desperate’ to discover whether she had a gene that would increase her risk – so that she could have preventative surgery – Ellie, 38, now a mother-of-four, regularly asked her GP for genetic testing but was repeatedly turned down as she did not meet the NHS criteria.
Then, in January this year – 13 years after her mother was diagnosed – Ellie was told she had the disease, and it was an aggressive form.
It was only then she was offered genetic testing. ‘It felt as if I had been offered a smoke alarm after my house burned down’, she says. Ellie is now undergoing chemotherapy and in future will have radiotherapy and a double mastectomy.
‘It’s been horrific,’ she says, simply. Ellie’s anxious nightmare began in 2013 when her mother Christine revealed she’d been diagnosed with breast cancer seven years earlier – but, intensely private, Christine had kept her diagnosis a secret from Ellie and her younger brother Jack until she could no longer hide it.
Christine died of the disease in 2015.
Ellie Sullivan, 38, regularly asked her GP for genetic testing – but was repeatedly turned down as she did not meet the NHS criteria. She is pictured today, six months after her diagnosis of triple-negative breast cancer, one of the most aggressive forms of the disease
Ellie says: ‘Frustratingly she refused to discuss her cancer even at the end. I didn’t even know what type of breast cancer she had. Mum was a vegetarian, didn’t drink and lived an incredibly healthy lifestyle. I thought, “This doesn’t make sense”.’
Ellie first asked her GP for genetic testing in 2013. She was referred to a local NHS genetics service in Birmingham but instead of seeing a specialist she received a questionnaire by post asking about her family history.
But because Ellie knew nothing about her family history apart from her mother’s – an only child – genetic testing was refused.
‘They said I didn’t tick enough boxes,’ she recalls.
Under current NHS guidelines, women who have not developed breast cancer are generally only offered genetic testing if they are estimated to have at least a
10 per cent chance of carrying an inherited mutation linked to the disease.
The assessment is based on computer algorithms that look at family history, the ages at which any relatives developed cancer and ancestry.
For example, anyone over 18 with at least one grandparent of Ashkenazi Jewish heritage can sign up for NHS testing because people with this ancestry are more likely to carry BRCA gene mutations, which are linked to breast and ovarian cancer (one in 40 women of Ashkenazi Jewish descent carries a mutated gene, compared with one in 250 in the general UK population).
Ellie, with one close relative diagnosed under 45 but no known mutation, did not qualify.
Her anxiety intensified when she discovered lumps in 2015, 2019 and 2021.
Each time they turned out to be benign cysts – although the radiographer carrying out her 2019 mammogram raised concerns about Ellie’s ‘granular’ breast tissue type.
She recalls: ‘I was told it would be difficult to spot a lump on a mammogram because this type of breast tissue, though healthy, shows up white and so do tumours. She suggested yearly MRIs – but someone more senior said I didn’t need it.’
Then, in January this year following a workout at the gym, Ellie noticed another lump as she was putting on her bra.
‘It seemed to catch on my breast, which hurt,’ says Ellie.
‘I assumed I’d pulled a muscle so touched the painful area. I felt a huge lump – which seemed to have appeared overnight.’
At a same-day appointment her GP suggested it might be a fibroadenoma, ‘a harmless mass of tissue’, but referred her to the breast clinic to be sure. Ellie underwent biopsies which revealed she has triple-negative breast cancer – one of the most aggressive forms of the disease.
Ellie says: ‘When they told me I definitely had cancer I was weirdly relieved. The waiting was eating me up.’
Unlike other breast cancers, triple-negative tumours cannot be treated with hormone therapies (such as tamoxifen) as they lack hormone receptors. Instead, treatment relies on chemotherapy and, in more advanced cases, immunotherapy.
The cancers also tend to grow quickly – Ellie’s tumour doubled in size from 1in to 2in in just two weeks – and spread earlier. Crucially, triple-negative tumours are also more likely to be linked to inherited genetic mutations that increase the risk of breast cancer.
Ellie’s cancer was grade 3 and stage 2, meaning the cells appeared highly abnormal and fast-growing. Thankfully the tumour, though large, had not spread to other parts of her body.
Only after her diagnosis did Ellie finally qualify for NHS gene testing which revealed she carried a mutation in a gene called PALB2, thought to be carried by around one in 1,000 Britons.
Ellie with her mother Christine the year she died. Two years earlier, in 2013, Christine revealed that she’d been diagnosed with breast cancer seven years before – but had kept her diagnosis a secret until she could no longer hide it
BRCA1 and BRCA2 mutations are known as ‘Angelina Jolie genes’, after the actress announced in 2013 that she had a faulty BRAC1 gene. She went on to have her ovaries and breasts removed to reduce her risk of cancer
PALB2 helps repair damaged DNA. When faulty, that repair process can fail.
Women who carry the mutated PALB2 gene face a lifetime breast cancer risk of around 50 to 60 per cent, compared with 14 per cent in the general population.
It is also linked to a small increased risk of ovarian and pancreatic cancer: affected women have a 5 per cent lifetime risk of ovarian cancer, up from 2 per cent in the general population, and it doubles the risk of pancreatic cancer for men and women to 2 to 3 per cent from 1 to 1.5 per cent.
Ellie’s diagnosis totally floored her as she had never heard of PALB2. She recalls: ‘I couldn’t breathe for crying. I felt anger, devastation – everything. I knew something wasn’t right and nobody had listened.’
Gareth Evans, an emeritus professor of medical genetics at the University of Manchester, points out PALB2 testing did not form part of routine NHS checks in 2013 – which then looked for BRCA1 and BRCA2 mutations, the so-called ‘Angelina Jolie genes’ (the actress announced in 2013 she had a faulty BRCA1 gene and went on to have her ovaries and breasts removed to reduce her cancer risk).
The PALB2 test was only added to enhanced NHS screenings in 2021 and now faulty copies of all seven genes linked to breast cancer are checked for: BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51C and RAD51D.
Ellie says had she been tested in 2021 and the mutation discovered she would still have had time to opt for a risk-reducing double mastectomy.
‘I would have done it in a heartbeat,’ she says.
Her experience has led her to launch a campaign called Test Us Too, calling for wider access to genetic testing. She has launched a petition which if it gets 10,000 signatures will require a response from government.
‘I believe that if you have a parent diagnosed under the age of 45 with cancers linked to genetic mutations, such as breast, bowel or ovarian cancers – and that parent has died or is unavailable for testing – you should automatically be offered a test,’ says Ellie.
‘I believe this could save the NHS money in the long run by preventing cases like mine.’
Professor Evans says the NHS has already expanded testing for breast cancer genes beyond the criteria of having a 10 per cent risk of carrying a mutated gene.
He explains: ‘We now offer testing to people with just one Jewish grandparent. This means that in reality we are already testing people with a well below 1 per cent chance of finding a genetic fault.’
Separate guidance from the National Institute for Health and Care Excellence (NICE) relating to ovarian cancer recommends testing when there is a 2 per cent chance of finding a fault.
Genetic testing is now under review, with NICE updating its guidance on familial breast cancer – including re-examining the thresholds used to determine eligibility for genetic screening and whether additional genes should be included in testing panels. New guidance is expected next year.
Some experts want more radical changes. Ranjit Manchanda, a professor of gynaecological oncology at Queen Mary University of London, believes all women should be offered genetic testing from the age of 18, regardless of family history.
‘Why do we need to wait for people to develop a preventable cancer to identify others in whom we can prevent cancer?’ he argues.
‘Diagnosing a gene carrier after a cancer diagnosis is a failure of cancer prevention.’
For Ellie, the hardest moment of all was breaking the news of her cancer diagnosis to her children – Oliver, 21; Zak, 19; Alfie, 15; and Florrie, 11. ‘They just screamed,’ she recalls
Professor Manchanda says current NHS thresholds miss a huge proportion of people who carry inherited mutations.
A study he led in 2020 found more than half of carriers of a faulty BRCA gene do not meet existing testing criteria and more than 95 per cent of carriers in the UK remain unidentified.
His research found a one-off test of the UK female population for BRCA gene variants alone could prevent an additional 57,700 breast cancer cases, and 5,900 breast cancer deaths – as well as 9,700 ovarian cancer cases and 5,900 deaths on top of the lives saved by current NHS testing and treatment.
Professor Manchanda also argues testing every woman who is diagnosed with breast cancer could help prevent future cancers and deaths – as well as proving cost-effective for the NHS.
He explains: ‘A large proportion of women with breast cancer due to gene mutations will go on to develop ovarian cancer. If they know they have the mutation they could make decisions to protect themselves, and the information could also alert relatives that they are at risk.’
But whether NHS genetics services could cope with broader testing is another issue.
Already results under can take up to ten weeks to come back.
Professor Manchanda argues that advances in technology mean genetic testing no longer has to rely on traditional models involving multiple face-to-face appointments starting with a referral from a GP; pre-test counselling, a blood test in clinic; then another GP appointment to receive the test results.
He is developing digital systems that could allow women to receive information online and complete a simple saliva test at home. They could then access results through secure platforms with specialist counselling targeted towards those who test positive.
His research also suggests broader testing need not necessarily increase anxiety. He says studies have found psychological outcomes comparable with those seen with current approaches.
‘We need to normalise talking about genetics and disease and people should be allowed to make their own decisions,’ says Professor Manchanda.
Expanding testing could also lead to earlier intervention and better outcomes according to Athena Lamnisos, chief executive of The Eve Appeal, a gynaecological cancer charity which has funded some of Professor Manchanda’s research.
‘This is an exciting and much-needed step in investing in cancer prevention,’ she says. ‘We can stop cancer before it starts through broadening a simple genetic test to a wider population.’ For Ellie, the hardest moment of all was breaking the news of her cancer diagnosis to her children – Oliver, 21, Zak, 19, Alfie, 15, and Florrie, 11. ‘They just screamed,’ she recalls.
Her children have a 50 per cent chance of having inherited the PALB2 gene mutation and must decide whether or not to be tested (from the age of 18).
Ellie began intensive chemotherapy treatment alongside the immunotherapy drug pembrolizumab in March.
As well as losing her hair and eyelashes, she’s suffered side-effects including severe fatigue, sickness, neuropathy affecting her hands and feet and swelling in her legs, which has been gruelling.
She has recently been hospitalised with a severe infection and blood clots. After the chemotherapy she will undergo radiotherapy and a double mastectomy.
She’s had to abandon plans to open a second salon and currently cannot work.
‘My career was my passion, so to have it taken away overnight is devastating,’ she says.
Ironically, she’s discovered that she may have previously unknown Jewish ancestry through her maternal grandfather.
‘It just goes to show how not knowing your family history can leave people vulnerable,’ she says.
Professor Evans stresses that inherited mutations represent only one factor in cancer risk.
Only around one in 5 to 10 per cent of breast cancers are thought to be related to a single inherited gene alteration – although a genetic fault is more than twice as likely in younger women with triple-negative breast cancer.
‘In 2021 we looked at 203 UK breast cancer patients under 40 and found that 18.7 per cent had a faulty inherited gene,’ he says.
Most of these had triple-negative breast cancer – in other types of breast cancer, the figure was ‘around 10.5 per cent’, he adds.
Around 30 per cent of breast cancers are caused by lifestyle factors such as obesity, smoking and inactivity, he says. But most are ‘not caused by anything except bad luck’.
Sally Kum, associate director of nursing and health information at Breast Cancer Now, adds: ‘If you have a family history of breast cancer, it’s understandable to have questions and concerns. We would always suggest speaking to your GP first.’
Ellie’s focus is firmly on the future. Her campaign to help others get genetic testing has given her a renewed sense of purpose.
She says: ‘I’ve had loads of messages from people with stories almost identical to mine. I can’t change my own diagnosis, but I hope I can change the future for other people.
Ellie’s petition can be found at: petition.parliament.uk and testustoo.co.uk.
For support and information, go to breastcancernow.org or call its free confidential helpline on 0808 800 6000.
