Let’s play a short game of word association. I’ll say Angelina Jolie. I bet the first thing that comes to mind is her decision to talk about her risk reducing double mastectomy.
Charities supporting women affected by inherited genetic faults that put them at high risk of breast and ovarian cancers all talk about the “Angelina Jolie affect”. They say her name is constantly mentioned as women seek information and advice about their inherited cancer risk. She’s done more than anyone else to raise the profile of the so-called BRCA genes.
There are two genes, known as BRCA 1 and 2 and named after BReast and CAncer because they dramatically increase a woman’s chance of developing breast cancer and ovarian cancer during her lifetime. The BRCA genes repair DNA and if there is a fault in one of the two copies that each of us carries, then cells cannot repair the DNA and a cancer results. Men and women can be carriers and while the risk of cancer is higher for women, both can pass the faulty gene on to their children.
So far, so theoretical. This all became much more of a reality for me when I was diagnosed with a faulty BRCA1 gene in the summer of 2015. Suddenly the numbers began to have real meaning for me – and my sisters, nieces and daughters.
I’d been asking questions about a family tendency to breast cancer ever since I was 15, when my mother was diagnosed with breast cancer. That was way back in 1979 before the world had heard of BRCA genes.
I asked again when I was diagnosed with uterine serous carcinoma (womb cancer) aged 50. The same answer as before – it’s unlikely there is a family link. Cancer is very common and anyway, the link between BRCA and womb cancer is very unclear.
I was lucky enough to get a referral to clinical genetics where something in my story sparked an interest. My family history did not indicate high risk but then my mother and father’s generation was very small.
I gave my consent, the blood test went off and eight weeks later (the standard waiting time) the result came back: a BRCA1 mutation was the probable cause of my cancer.
The statistics bandied around look terrifying. My three sisters had a one in two chance of also inheriting the mutation as did my children. With that comes a 60 to 90% lifetime risk of breast cancer and 40 to 60% risk of ovarian cancer.
I was treated at Guy’s and St Thomas’s Hospital where, I have since learned, they offer the gold standard service. I had an appointment at the BRCA Family Clinic where I saw the clinical geneticist, the clinical psychologist and the research nurse. A breast surgeon, plastic surgeon and breast nurse as well as a clinical oncologist were available should I need them.
The clinical geneticist was able to help me think through my risk. With my ovaries already long gone as a result of surgery for my womb cancer, my risk is around breast cancer. Yes, the statistics look terrifying for lifetime risk, she agreed. But when you look at annual risk for my age, the numbers change. I am now looking at a 1 to 2% annual risk. Higher than average, but I think manageable with annual screening.
Next we talked about my family. My main concern was whether or how to tell my children. They are only 11 and 15 and much too young to know. Maybe not, she suggested. Secrets are not helpful; someone will spill the beans. Is it better to make this part of normal conversation?
I worked with the clinical psychologist to think through how and when to talk to them. In the car is, counter intuitively, a good place. It takes the pressure out of the situation and makes it seem more normal. It’s not going to be a one-off conversation and they need to be encouraged to ask questions – but understood that they probably won’t.
Finally, I saw a research nurse who signed me up to a clinical study looking at lifestyle risks and BRCA cancers. It is not the BRCA gene that gave me cancer but environmental influences that caused DNA damage that my poor mutated gene could not repair.
I left with a leaflet about talking to children, which has been put to good use. The conversations went better than expected and we can now work through what it means for them slowly, over time. My sisters now know and I am in the process of tracking down long lost cousins on my mother’s side who also need the information to make their own decisions.
Telling my family about my BRCA status has been hard. Each of my sisters has said rather too brightly that they are “fine” with the information. But I know that they, like me, will have the knowledge rattling around in their heads for months to come.
The more I look into this, the more complex it seems. Can risk reducing surgery really be the best option? I found the decision to reject breast surgery straightforward but I am 51 and have had my children. It’s a horrifying prospect when I think about my daughters. So the news that The Eve Appeal has set up the BRCA PROTECT Research Clinic to find alternatives is more than welcome.
And what about the link between uterine serous carcinoma and BRCA mutations? The research to prove a link has not been done; nowhere in any guidance from NICE to NHS England’s commissioning guidance to all the patient literature from charities and hospitals is this mentioned. Yet here I am – the living proof. Guys and St Thomas’s have changed their BRCA testing criteria and others, will, I hope follow along with research.
It really isn’t simple having a BRCA positive result. It’s not just a stone you are throwing into a pond; more like a ruddy great brick. The ripples go on and on.