Women with cancer gene faults have difficult decisions to make, writes James Jopling
For those who are fans of EastEnders, you will know that one of the main characters – Carol Jackson – has breast cancer. You will have watched, as I did, Carol receiving the news she also has the faulty BRCA2 breast cancer gene, and how she faced up to the life-changing decisions in front of her.
Up to one in 20 cases of breast cancer are associated with a faulty gene, such as BRCA1 or BRCA2, and the risk of developing breast cancer for women who carry one of these faulty genes can be very high, at up to 85 per cent. For women carrying a faulty BRCA gene there is also a risk of ovarian cancer of up to 40 per cent. BRCA gene faults are usually found in families who have an unusually high number of relatives on one side of the family diagnosed with breast and, or, ovarian cancer, often at a younger age than would be expected.
With a leading character in such a popular soap carrying a BRCA gene fault, it’s a timely moment to considering what it means for women.
For women who are at higher risk of breast cancer because of their family history, there are very real decisions to make. Some women choose to have extra screening starting at a younger age than the 50-70-year-old group of women who are invited to attend breast screening every three years through the National Screening Programme. This doesn’t prevent breast cancer, but it means a better chance of detecting breast cancer at an early stage when there is a higher chance of successful treatment. Other women choose to have surgery which can dramatically reduce the risk of developing breast cancer. This can either be a mastectomy (removal of the breasts) or oophorectomy (removal of the ovaries, which reduces the risk of both ovarian cancer and breast cancer) or both. Women can also now be offered drugs, known as chemoprevention, as another way of reducing risk of breast cancer.
And these choices are very personal. What’s right for one woman might not be right for another. The NHS in Scotland provides an excellent genetic counselling service for women at higher risk of developing breast cancer to help them understand their options and make an informed choice about how to manage their risk. Recently updated guidance around family history, to which Breakthrough contributed, will further enhance the quality of the service in Scotland.
The BRCA genes of course came to great prominence last year when Angelina Jolie had a double mastectomy as a way of reducing her risk of developing breast cancer. The actress took this course of action when tests showed she had the BRCA1 gene fault, inherited from her mother who died from ovarian cancer at the age of 56. Other celebrities have also opted for double mastectomies for similar reasons, including Sharon Osbourne and Michelle Heaton.
Yet a double mastectomy is a serious operation and some clinicians fear the “Angelina Jolie” effect is increasing the demand for this type of surgery, regardless of whether it is clinically required. Professor Mike Dixon, professor of surgery at the Western General Hospital in Edinburgh, recently spoke out about this. He is very concerned that women who don’t have the BRCA gene, but who have a cancer in one breast, are starting to ask for both to be removed based on the profile well-known celebrities like Angelina Jolie have given mastectomies. This, for Prof Dixon, is worrying. In his professional view, a double mastectomy is a serious procedure and shouldn’t be taken unless clinically necessary. This is a sentiment shared by Breakthrough.
We encourage anyone who is at all worried about cancers in their family to speak to your doctor who will be able to help explore your family history and decide whether or not you need to be referred to a specialist for further assessment. Breakthrough Breast Cancer also has a family history information booklet available at www.breakthrough/familyhistory so that women can understand more about their risk and when they should be referred.
For women with the BRCA gene fault, research for the future is vital. Breakthrough Breast Cancer scientists were part of the team that looked more closely at the BRCA2 gene and enabled the detection of faults in women with a strong family history of breast cancer. There is a massive worldwide effort, involving many Breakthrough and other UK scientists, to uncover more genes that play a role in the development of breast cancer that will ultimately allow us to understand more fully a woman’s risk of developing cancer and to develop new treatments. Let’s hope in future this means women will have fewer difficult choices to make but in the meantime popular culture, including EastEnders, has a role to play in raising awareness of the genetic link in some cases of breast cancer.
• James Jopling is Scotland Director of Breakthrough Breast Cancer, www.breakthrough.org.uk