“It must be more than just bad luck – it must be genetic”: Three women with BRCA gene mutations share their experiences

This month, we’ve been marking the 30th anniversary of the discovery of the BRCA1 gene. That discovery, along with that of BRCA2 just a year later, revolutionised how we prevent, diagnose and treat certain cancers.  

Faulty BRCA genes can be inherited from either parent, and people with these mutations can have an increased risk of developing certain cancers, including breast, ovarian, prostate and pancreatic cancer.  

Here, three women with faulty BRCA genes share their experiences of cancer.  

Maria’s story 

Maria’s experience of cancer started at an early age, when her mum lost two of her sisters, both in their 30s, to breast cancer. Her mum’s grandmother also died from the disease. 

“Fast forward 30 years to my own grandmother and her two sisters passing away from the same thing. It was obviously a worry in the family. 

“Surely that can’t be coincidence; something about that screams it must be more than just bad luck – it must be genetic.” 

Then, in 2018, Maria’s mum was also diagnosed with breast cancer and tests showed that she had the BRCA2 gene mutation.  

Maria had six cycles of chemotherapy followed by a double mastectomy with simultaneous reconstruction with implants.  

Maria is now on a five-year course of tamoxifen, a hormone therapy that can help to reduce the risk of breast cancer coming back.  

She’s also waiting for a preventative oophorectomy (surgical removal of the ovaries) as the BRCA2 gene also increases the risk of ovarian cancer. 

“I have been in early menopause since the end of my treatment, which has left me feeling drained, tired and in pain. Everyone thinks you just get back to normal after treatment for cancer, but I have found everything a struggle, including just going to work every day. 

“It has been particularly hard coming to terms with the fact I will never be able to have children, but I am grateful every day to be here.”

Maria’s big family meant many of her relatives were eligible for genetic testing.  

“My mother is 1 of 10 children and I have countless first and second cousins. I am one of six children of whom four tested positive, as did several of my uncles and aunties; nine of us in all have had preventative surgery, along with those who have had surgery due to having cancer. 

“Had my mum not had the genetic test I might not be here now. Instead, I have survived for more than five years after diagnosis and been treated, as has my mum. We are all so thankful to her; the best way I can show this is by telling our story and helping to spread awareness of the fact that there can sometimes be a genetic link to cancer.” 

Gillian’s story 

At the age of 38, almost a year after losing her mum to breast cancer in June 1999, Gillian found a small lump in her breast. She visited her GP who sent her to the local hospital to get it checked.  

“Then in March 2007 I started to feel really bloated which was unusual for me as I’d always been rather slim. I wondered if it was something to do with my menstrual cycle or maybe menopause. But my GP said it wasn’t normal for me and sent me straight off for a blood test and ultrasound.” 

The ultrasound showed a solid mass on one side of her stomach and a fluid filled mass on the other side. Gillian was referred for a CT scan and further blood tests, which showed that she had ovarian cancer. 

“By this time, I looked like I was six months pregnant and on 7 June 2007 I had a full hysterectomy, and the surgeons removed a tumour the size of a football. 

“A few weeks after the operation I started chemotherapy – a combination of carboplatin and paclitaxel. Chemo wasn’t as bad as I’d thought it would be. The worst side effect was that I ached all over, it was hard to sleep I ached so much. Losing my hair was no big deal really; it was a case of saving my life or saving my hair, so it was an easy decision to make!” 

Gillian had five cycles of chemotherapy, finishing in November 2007.   

Then, a month later in December, Gillian tested positive for the BRCA1 gene mutation, which she was found to have inherited from her father.  

Because this meant that she had an increased risk of her breast cancer returning, Gillian had a double mastectomy with implant reconstruction in March 2023.  

She has since made a good recovery from the surgery and is doing well.  

Sue’s story

Sue first started noticing signs that something wasn’t quite right for her body in November 2016 when she started gaining weight, despite trying to lose it.  

“Over Christmas I felt bloated but put it down to overindulgence until my sister came to stay. We talked about our recent discovery that our cousin, who had had breast cancer, had been found to carry a BRCA gene mutation. 

“Our mother had died of breast cancer, but although we had not been tested my sister drew my attention to the fact the gene could also be associated with ovarian cancer.” 

On the advice of her sister, Sue made a GP appointment, where she was referred for an ultrasound and blood tests. The next day, her GP called her in urgently to tell her that her levels of CA125 – a protein that is often higher in people with ovarian cancer – were very high. The ultrasound found a 15cm mass, further pointing towards a suspected ovarian cancer diagnosis. 

Sue had a hysterectomy in February 2017 and started chemotherapy in March as part of a clinical trial called JAVELIN Ovarian.  

During her chemotherapy, Sue was tested for BRCA gene mutations and found out she had a faulty BRCA1 gene.  

As she had been part of a trial, Sue had regular CT scans and blood tests. Unfortunately, in June 2018 there was a rise in her CA125 levels. By the autumn her CA125 had increased even more, and she was put back on chemotherapy.  

In March 2019, Sue joined the Cancer Research UK funded ICON9 trial. This trial was looking at the effectiveness of long-term treatment with two drugs called olaparib and cediranib for women whose ovarian cancer has started to grow again. 

Sue was in the group taking just olaparib tablets twice daily.  

“I feel so lucky my oncologists are the chief investigators of the trial. I am currently on two-monthly investigations, and my CA125 count has remained stable.

Sue, who has three children, is now doing well. 

“My health in general is great and all my children treat me as if life is back to normal, which is lovely,” said Sue.  

“As someone who is receiving first-hand the benefits of the wonderful research of Cancer Research UK, I am endlessly thankful and fully appreciate the relentless funding that is needed to achieve so many new therapies and wonderful outcomes. Without funding and the tireless work of Cancer Research UK, we would have no success stories to share.” 

Continuing to make progress 

Since the discovery of the BRCA genes 30 years ago, we’ve made huge leaps forward in understanding faulty BRCA-driven cancers – leaps that are saving and improving lives right now. 

But our work isn’t done yet. We want to bring about a world where everybody lives longer, better lives free from the fear of cancer. No matter who they are or where they’re from.