BRCA (pronounced ‘bracka’) stands for BReast CAncer susceptibility gene. There are two BRCA genes – BRCA1 and BRCA2. These genes function as tumour suppressors, helping to prevent the formation of cancer. When either of these genes carries a mutation, a woman has a high risk of developing breast and ovarian cancer, and men with these mutations are also at increased risk of breast and prostate cancer.
In 1995, at the age of 44 years, my mother developed a few symptoms that were unusual, including a bloated abdomen, backache, needing to pass urine more frequently, constipation and general malaise. I was 16 years old at the time and at sixth-form college.
She visited her family doctor on numerous occasions but, sadly, her cancer was missed and a number of months passed before it was finally diagnosed. A blood test was carried out to look for the cancer antigen 125 (CA-125) which is produced by some ovarian cancer cells. The test revealed an elevated CA-125 level of 450 units/ml and, given the presence of a mass, ovarian cancer was strongly suspected. Within a couple of weeks, she had had a total abdominal hysterectomy with bilateral salpingo-oophorectomy to remove her ovaries, fallopian tubes, womb and cervix. After her surgery, the doctors soon confirmed that she did, indeed, have ovarian cancer and she was diagnosed with advanced stage (stage III/IV) bilateral ovarian cancer with metastases to the peritoneum.
“If I knew that my flight had up to an 85% probability of crashing, I wouldn’t get on that plane! Likewise, if I knew that I had up to an 85% risk of breast cancer, I wouldn’t choose to do nothing about it.”
Prior to my mum’s diagnosis with ovarian cancer, I knew very little, if anything, about ovarian cancer and had never heard mention of the BRCA genes. However, after my mum’s diagnosis, and with her fears over her daughters’ future health, the consultant mentioned the possibility of her cancer having resulted from a harmful BRCA gene mutation, although he felt this was unlikely given no other cases of known ovarian or breast cancer within our family.
A couple of years after my mum’s diagnosis, I went to study Human Biology, a subject which I find fascinating, at Loughborough University. Sadly, within a couple of years, my mum’s cancer became terminal and she passed away at the end of my second year. Shortly afterwards, I returned to university to complete my final year. During that year, I studied the Genetics of Cancer and I read about the BRCA genes. I suspected that there was a strong possibility that she had carried a BRCA gene mutation. If so, then I would have a 50:50 chance of carrying it too. For now though, I needed to put this possibility to the back of my mind and concentrate on finishing my degree.
Over the years that followed, I spoke with my family doctor about the possibility of my mother having carried a BRCA gene mutation; she held the opinion that it was very unlikely. My family doctor explained that, under the current National Institute for Clinical Excellence (NICE) guidelines, I was not eligible for referral for BRCA gene mutation testing under the NHS. That all changed when, towards the end of 2012, when I was 34 years old, I learned that my older sister had pursued private testing and been found to carry a harmful BRCA2 mutation. This confirmed beyond any reasonable doubt that my mum must have also carried this mutation and, if so, then I would have a 50:50 chance of being a carrier. I was now eligible under the NICE guidelines for referral to a genetic counsellor for BRCA gene testing.
On my 35th birthday, I attended an initial appointment with a genetic counsellor to discuss the possibility of being tested. I explained my reasons for doing this and, at the end of this first meeting, a blood sample was taken. Four weeks later, I was informed that I carried a harmful BRCA2 gene mutation. Finding out that I carried this mutation wasn’t the news that I had hoped for but, at the same time, it didn’t come as a surprise. It was, however, alarming to be told that I had a much greater risk of developing breast and ovarian cancer than people in the general population, as well as a small increased risk of several additional types of cancer. I was in a state of shock and feared that I would die in the same way as my mum. I feared also for my children and their future health. I wondered whether this mutation had been passed down to them, and I found myself imagining them being diagnosed with cancer. The thought of this was just too much to bear and it was, by far, the most distressing of my emotions. However, I reminded myself that, for now at least, I had to put the worry of my children’s future to one side until they themselves were old enough to be tested. The most important thing for now was coming to terms with my news and making a decision about how I would lower my risk of developing breast and ovarian cancer. I felt determined to spare my children the trauma of seeing their mother live through cancer and to improve the likelihood that I would be around to support them in the future.
I needed to make the decision on how I would manage my increased risk of breast and ovarian cancer. For a very brief moment, I considered the possibility of doing nothing at all – after all, I might never go on to develop cancer; I might be one of the lucky ones. But, the odds were very heavily stacked against me. If I knew that my flight had up to an 85% probability of crashing, I wouldn’t get on that plane! Likewise, if I knew that I had up to an 85% risk of breast cancer, I wouldn’t choose to do nothing about it.
I had three options available to me; enhanced screening, chemo-prevention and risk-reducing surgery. Personally, I did not feel comfortable with breast screening throughout the course of my life for the simple reason that my risk of developing breast cancer was exceptionally high. Even if I was lucky enough for it to be caught early, I considered the fact that there were women whose cancers had been detected at an early stage who had still succumbed to their disease. Furthermore, with this option, I knew that I would always be living in fear of developing breast cancer. With regards to ovarian screening, I was advised by my genetic counsellor that there would be no screening available to me under the NHS as it was considered to be ineffective.
“I felt determined to spare my children the trauma of seeing their mother live through cancer and to improve the likelihood that I would be around to support them in the future.”
As far as chemo-prevention was concerned, I disliked the idea of taking medications, such as tamoxifen, to lower my risk of developing breast cancer. This was partly because the side-effects experienced by people taking this drug can be extremely difficult to tolerate, causing many to stop taking it long before the five year period is up, and also partly because of the associated increased risk of uterine cancer. In addition, I felt that taking a low-dose oral contraceptive, which might lower my likelihood of ovarian cancer, was not the right choice either, because of the slightly increased risk of associated breast cancer. For these reasons, chemo-prevention was not an option with which I was comfortable.
This left me with the possibility of risk-reducing surgery. Whilst this was the most drastic, and in no way an appealing option, it was the one which would give me the greatest reduction in risk of developing both breast and ovarian cancer. These at-risk tissues could be removed from my body, thereby lowering my risk of ovarian cancer down to approximately 1% and my risk of breast cancer down to approximately 3-5% to age 70. Being able to reduce my risks down to as low as this was phenomenal and, for me personally, it felt like the most logical step to take. Personally, I wanted to lower my risk of developing breast cancer and ovarian cancer by as much as possible and, for this reason, I soon knew that undergoing removal of my ovaries and tubes, known as a bilateral salpingo-oophorectomy (BSO), and a bilateral mastectomy was the right decision for me.
My full personal journey, and an in-depth analysis of the science and medical literature relating to BRCA gene mutations, can be found in my book, ‘Understanding BRCA’, available via Amazon and all good book retailers. I am delighted to say that my book has been ‘highly commended’ by The British Medical Association (BMA) and is, also, a Finalist of The People’s Book Prize competition. If you feel my book is worthy of your vote, please visit https://peoplesbookprize.com/summer-2018/understanding-brca/ from 01 April 2019.
My webpage www.understandingbrca.co.uk and associated Facebook support group – Understanding BRCA - is available to anyone affected by a BRCA gene mutation. If you have been recently found to carry a harmful BRCA gene mutation, or if you fear that you may be at high risk of breast and/or ovarian cancer, please get in touch and I will do all that I can to provide as much support as possible.