When she died of breast cancer aged only 43, amateur athlete and fundraiser Jane Tomlinson left a number of incredible legacies – including a charitable appeal which has raised over £10million.
But perhaps the most important legacy was one that the NHSradiographer and mother of three from Leeds kept to herself and her family.
Before her death in 2007, Jane asked doctors to take a sample of her blood to be used by her family – to allow them to check for genes that raise the risk of cancer, particularly for faulty BRCA genes linked to breast cancer.
Jane was never tested because, for her at least, it was too late. She was diagnosed with breast cancer aged 26 and had a mastectomy. In her 30s, the cancer returned – this time having spread to her bones, by which time it was terminal.
However, Jane wanted to ensure that her family could have the chance to find answers that could affect their own health.
Today, her three children – and three grandchildren – are benefiting from that foresight.
The risks revealed by testing
Because when the blood was eventually tested in 2023, it was revealed that she did indeed carry the mutated BRCA2 gene that dramatically increases the risk of breast and ovarian cancers.
On the back of that discovery, her middle daughter Becca, 37, underwent tests that revealed that she also carries this gene.
Bravely, mother-of-two Becca then had a double mastectomy to remove both breasts and salpingectomy (removal of fallopian tubes) to reduce her risk of dying from the disease that killed her mother at such a young age.
Becca’s motivation is simple: ‘I don’t want my children to go through the situation I did.’ She was just a teenager when her mum died.
‘Mum took that blood sample purely for us, and it’s possibly saved my life and means I can be around for longer for my children,’ says Becca, who lives in Leeds with husband Pedro, 39, a buyer for a car manufacturer, and their children Leonor, five, and Diogo, three.
‘None of my family would be eligible for NHS testing unless it was known that Mum had the gene – which is why the blood sample was so important.’
Becca previously turned down the offer of being investigated for the gene, as she didn’t feel ready for the burden of bad news. It was after having Leonor that she and Pedro felt they should find out more.
The importance of genetic counselling
The process first involves genetic counselling, going through your family history in detail with a genetic counsellor – who will help clarify your risks of genetic-based diseases – and having a blood test.
After having the counselling in 2022, Becca shared the findings with family members – but none of them did any more until a year later, when a close family member found a breast lump.
This kick-started them to take the next step: having their mother’s blood tested to check for BRCA gene mutation.
In May 2023, Jane’s blood sample was tested. This revealed that she carried the BRCA2 mutation, meaning that each of her children had a 50 per cent chance of also carrying it.
‘It was the worst moment for me because it made everything more real and I felt quite alone,’ says Becca.
‘Out of her three kids, I’m most like mum in temperament and personality, so I suddenly thought: “Am I going to replay everything that happened to Mum?”’
‘I was on maternity leave after having Diogo, and Leonor was only two – suddenly my thoughts turned to Mum, who was told she was terminal in her mid-30s.
‘It gave me so much more insight into how Mum must have felt when she was given that news and had three children.’
The finding from her mother’s blood meant that Becca was now eligible for her own testing.
Hannah Musgrave, a genetic counsellor at Leeds Teaching Hospitals Trust, says genetic testing relating to breast and ovarian cancers is offered on the NHS to those diagnosed with these cancers, ‘who may benefit from different treatments or who have a 10 per cent chance of having a change [i.e. a mutation] in one of the seven genes we routinely test for’.
Factors taken into account that might suggest this include ‘the age at diagnosis, specific characteristics of the cancer and family history’, she says. Jane was eligible for genetic testing ‘as she was diagnosed at a very young age’.
Hannah added: ‘Once a gene change is found, we can offer a “predictive” genetic test to family members to help them understand their personal risk levels. A “positive” test result may allow people to access more cancer screening or consider options to reduce their risks.’
However, not everyone wants to know if they have at-risk genes, as testing positive for one doesn’t guarantee you’ll develop cancer.
A woman with the BRCA2 gene mutation has a 61 to 77 per cent risk of developing breast cancer, and a 10 to 25 per cent risk of developing ovarian cancer.
Without the gene, a woman’s chance of developing breast cancer is around 14 per cent, and 2 per cent for ovarian cancer.
Hannah said: “Some people find knowing is empowering – but others find they worry more about cancer or feel burdened.”
When Becca discovered she had a BRCA2 mutation, it hit her hard. She said: ‘I felt numb, I just wanted to take the information and leave.’
She was given a sheet with a spreadsheet of the risks and how to manage them – for instance, having annual mammograms from the age of 40; undergoing surgery, such as a mastectomy and the removal of fallopian tubes; or taking drugs such as tamoxifen, which blocks the receptors that oestrogen can otherwise lock onto – this can fuel a tumour’s growth.
Knowing your family history helps
Having a mutated BRCA gene – as famously carried by Angelina Jolie – dramatically increases the chance a woman will develop breast cancer in her lifetime, from 12 per cent to 90 per cent.
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 percent chance of inheriting the mutations.
About 1.3 per cent of women in the general population will develop ovarian cancer, this increase to 44 percent of women who inherit a harmful BRCA1 mutation.
Weighing up the options and potential outcome
Professor Zoe Winters, a senior consultant oncoplastic surgeon at One Welbeck clinic in London, says risk-reducing treatment can include hormone-inhibiting drugs such as tamoxifen, Arimidex and letrozole – particularly for women over 65 with a BRCA2 mutation, where risk-reducing surgery (such as mastectomy) may carry greater risks than benefits.
But she adds that for younger carriers of the BRCA2 mutation, ‘risk-reducing mastectomies provide major risk reduction against breast cancer’.
Becca quickly decided that she wanted surgery.
She said: ‘I was 35 and felt that no amount of screening would be 100 per cent certain. I hate boobs anyway, they’re a reminder of breast cancer and I decided to not have reconstruction as I’m quite petite and I worried it would have looked obvious.’
Becca had her operation in September 2023 and found the psychological toll harder than the physical one.
‘When I first woke up, I was all bandaged up and it was obvious I didn’t have boobs, so for those first few days it was hard to process,’ she says. ‘But I told myself that if I still felt the same way in six months, I could have implants.’
Becca adds: ‘Another thing that worried me was that the breast tissue they had taken was going to be examined for any cancer cells. But I was told pretty quickly that it was clear, so that was a huge relief.’
By the following year, Becca was ready to take the next step to reduce her chances of developing ovarian cancer, too.
‘Pedro and I knew that we weren’t going to have more children, so I put myself on a waiting list to have more surgery,’ she says.
In December 2024, she had her fallopian tubes removed – after she saw research that shows that ovarian cancer can start there.
‘I was in and out of hospital within the day – and the recovery was easier than the mastectomy,’ she says.
‘Now I will plan an oophorectomy – having my ovaries removed – in my early 40s. I didn’t want it at the same time, as it will bring on menopause symptoms and I didn’t really want these in my 30s.’
What the future holds
There is good evidence to suggest that ovarian cancer starts in the fallopian tubes, says Khalil Razvi, a consultant gynaecological oncologist based in Essex and East London, who can be found on the Doctify platform. He says trials are ongoing to confirm whether removing them reduces the risk of the disease.
‘The advantages of removing the tubes while preserving the ovaries include avoiding early menopause while preserving possible fertility,’ he says.
The fact that Becca has the BRCA2 mutation means there is a 50 per cent chance of her children having it, too.
‘We will leave it to them to make the decision to be tested when they’re older,’ says Becca.
‘All I can hold on to is the fact that science is progressing, so by the time the even think about whether they want to be tested, there will be so many more advances.’
She is grateful that she’s been able to take control of her risk of developing cancer – and is speaking out now to ensure people in her position know ‘you can reduce your cancer risk and manage them well. I look at it as knowledge giving me power’.
