Double mastectomy: Angelina Jolie opted for pre-emptive surgery after discovering it would virtually eliminate her high risk of breast cancer
Sophie Graham understands better than most the heartbreak behind Angelina Jolie’s double mastectomy.
Jolie opted for pre-emptive surgery after discovering it would virtually eliminate her high risk of breast cancer due to a faulty BRCA1 gene — the same gene linked to her mother’s death from ovarian cancer at 57.
The film star also plans to have her ovaries and fallopian tubes removed to reduce her higher risk of ovarian cancer.
And just this week it was revealed that the star’s aunt had died of breast cancer, aged 61.
Debbie Martin, the sister of Jolie’s mother, also carried the faulty BRCA1 gene.
Sophie, 39, has the same faulty gene. The occupational psychologist from West London was, like Jolie, given frightening odds of developing these gynaecological cancers.
She was tested for the faulty gene nine years ago after her mother, who had ovarian cancer, was found to carry it. Her mother died a few months after she took the test.
But Sophie agonises over whether to have her breasts and ovaries removed.
‘I’m not convinced that having a double mastectomy will make a real difference to my health prospects, given the effectiveness of breast screening,’ says the mother of a three-year-old girl.
‘But I feel that getting rid of my ovaries is critical, mainly because ovarian cancer is hard to detect and treat, and it will also have a preventative impact on breast cancer. Yet it’s terrifying as it will propel me into an early menopause, with everything that involves.’
But some experts aren’t convinced that removing healthy tissue is protective.
Furthermore, they fear that genetic tests such as the one Jolie had could create an ever-growing group of ‘worried well’: women and men whose life is changed for the worse as the discovery of the faulty gene means they face surgery to remove healthy body parts.
For while it’s relatively rare to have faulty BRCA1 and BRCA2 genes, a far larger group of ‘cancer predisposition genes’ have been identified, with a new test for these due to be launched in 2014.
Known as the TruSight Cancer Panel, the test — which costs a few hundred pounds — checks for 97 genes linked to a greater risk of cancer.
From next year, it will be available to all newly diagnosed cancer patients; it’s estimated around 2 per cent every year will be found to have one or more of these genes. The relatives of these patients will also be offered the test.
The results will enable doctors to tailor therapies to patients with cancer. For their relatives, the information will mean that ‘screening or preventative measures can be employed’, explains Professor Nazneen Rahman, head of genetics at the Institute of Cancer Research.
Yet such tests open up the possibility that not just breasts and ovaries, but other healthy body parts — such as the thyroid gland or moles — could be removed as a preventative measure.
Last week, it was reported that a 53-year-old London man has become the first person in the world to have his prostate removed after discovering he has a faulty BRCA2 gene.
This is despite the fact there’s only limited evidence that having the faulty gene will mean a man has an increased chance of developing an aggressive form of prostate cancer.
‘Removal of the prostate is radical surgery that can cause serious long-term side-effects including erectile dysfunction and incontinence.
We do not advocate at this stage that other men with this gene fault but no known cancer are offered prostate removal,’ says Dr Sarah Cant, of Prostate Cancer UK.
One leading expert who is not convinced about the case for removing healthy tissue is Ian Fentiman, professor of surgical oncology at Guy’s Hospital, London.
‘Future generations will look back in horror at the practice of cutting off a woman’s breasts in the belief that it will prevent cancer,’ he says. ‘Sadly, for some women this may prove a vain hope.’
Professor Fentiman was one of the first clinicians to recognise the potential for ‘difficult consultations’ resulting from the breakthrough in identifying the faulty BRCA1 and BRCA2 genes.
Passing: Angelina's aunt Debbie passed away early Sunday morning hours after being taken off life support
Writing in the British Medical Journal in 1998, he warned that he and his colleagues would be faced with ‘an increasing number of well‑informed young women with pathological mutations’ for whom ‘no proved preventative approaches will obliterate the risk’.
In the Nineties, Professor Fentiman called for all cases of preventative mastectomy to be recorded on a central register, so women subsequently diagnosed with breast cancer could be identified to show if the operation was beneficial.
‘I discussed it with the Department Of Health, but nothing was ever done,’ he told the Mail this week.
Instead, the predictions about how much preventative surgery reduces the risks are based on studies of small groups of women over short periods of time.
Instead, the predictions about how much preventative surgery reduces the risks are based on studies of small groups of women over short periods of time.
For instance, one carried out at the University of Pennsylvania followed 139 women with the faulty genes, 76 of whom underwent a preventative mastectomy.
After two-and-a-half years, there were no cases of breast cancer in the group who had surgery, compared with eight cancers in those who did not have the op.
Another study at the Mayo Clinic in the U.S. found that three out of 214 women developed breast cancer over three years following a preventative mastectomy.
Mother and daughter: The star's mother, Marcheline Bertrand, tragically passed award from the disease in 2007
‘We’d have much better information if we’d been able to follow every woman with the faulty gene who has undergone a preventative double mastectomy,’ says Professor Fentiman. ‘As it is, we don’t even know how many women have had the operation in the UK.’
And while we don’t have a clear picture of how extensively the surgery prevents cancer, there is evidence non-surgical preventative strategies do work.
Last year, the National Institute for Health and Care Excellence (NICE) recommended preventative anti-oestrogen treatment for women at increased risk of breast cancer but who’ve never had the disease.
For the first time, hormonal medications, particularly tamoxifen, are recommended for healthy women with the faulty BRCA1 gene — with research suggesting these reduce the incidence of breast cancer in cancer gene carriers by 49 per cent.
A major study by Cambridge University following 5,000 men and women with the faulty genes is also investigating how far changes in lifestyle, such as exercise and nutrition, reduce the cancer risk.
There’s evidence, too, showing the risk of dying is reduced by annual screening (with MRI scans for women with the faulty BRCA1 and BRCA2 genes between the ages of 30 and 50; after that age, annual mammograms).
A major U.S. study published in the Journal of Clinical Oncology in 2010 analysed survival rates in women with the cancer genes and found that those who undergo intensive surveillance live as long as those who have their breast tissue removed — though they are more likely to develop breast cancer.
But it is also important to note that having the faulty gene does not mean cancer is inevitable, says Jackie Harris, clinical nurse specialist at the charity Breast Cancer Care.
‘Breast cancer is not a genetic disease like Huntington’s where the defective gene guarantees the development of the disease. Having a cancer gene increases the risk of cancer, but you may also die in old age of something else entirely.’
Fighting on: Angelina, pictured with fiance Brad Pitt, bravely revealed she had undergone a double mastectomy in February after being identified as carrying the BRCA1 cancer gene
Yet psychologically, it seems, there’s much appeal in ‘being proactive’, as Angelina Jolie put it, by surgically removing healthy tissue.
Indeed, the opportunity for prophylactic surgery can give women found to have the cancer gene the feeling of being back in control, says Dr Susan Cleator, breast oncologist at Imperial College Healthcare NHS Trust.
‘It’s a different option to picking up a cancer that has already developed and which may require radiotherapy and chemotherapy as well as surgery within a short time frame,’ she says.
‘Prophylactic surgery can be planned with plenty of time to consider breast reconstruction options and almost certainly avoids the need for further treatment.’
Sophie has so far chosen intensive surveillance — with annual breast scans and ultrasound of her ovaries.
A few weeks ago, however, news of a cousin with terminal ovarian cancer at the age of 31 has forced her to reconsider.
As a mother already, Sophie can’t imagine wanting more children, not least as she was divorced last year. ‘Yet making a decision that ends that option is also tough — even though keeping my ovaries feels as though I’m playing Russian roulette with four bullets in the gun.’
Despite her concerns, Sophie has no doubt where she stands on genetic testing.
‘For me, knowledge is power. The fact that my mother was dissuaded from being tested and didn’t know that she had the BRCA1 gene until it was too late still plagues us as a family,’ she says.
‘I spend lots of time going to screening appointments, and the knowledge that I’ve got to bite the bullet torments me. But I am the lucky one — I have the power to make an informed choice.’
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