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Knowledge of BRCA2 gene is power


This week marks 25 years since our researchers discovered the BRCA2 gene. Our Cancer Stories Officer, Lydia Brain, spoke to Davina Gardner – a survivor of ovarian and breast cancer – about being a BRCA2 gene mutation carrier and how it has affected her and her family.

Posted on 06 March, 2019 by Lydia Brain

Davina Gardner standing next to flowers

Davina (pictured above) was diagnosed back in September 2013. After months of back pain, which had been misdiagnosed as urinary tract infections (UTIs), her symptoms were getting much worse.

“When I got home after a conference, I was in absolute agony and was violently sick. I was rushed to A&E in an ambulance.”

She was due to be discharged with what was again suspected to be a UTI when she was given some extra tests. A vaginal ultrasound led her to be referred to a gynaecologist immediately.

“I had previously had a total hysterectomy in my 40s, so I did think it was probably a problem with my ovaries, but still at this point cancer hadn’t even crossed my mind.”

Davina’s ovarian cancer diagnosis

“I was still waiting on the ward, when that next morning a doctor came to find me to tell me I had cancer. It was so shocking and upsetting, I hadn’t been expecting it at all.”

Davina had a full debulking surgery in November, where all non-essential organs are removed. She was put onto a chemotherapy cocktail, which included carboplatin, a drug discovered by the ICR.

Davina’s treatment was a success and she has had no evidence of ovarian cancer since finishing chemotherapy.

Genetic testing

Davina’s family has been hit hard by cancer. Both Davina’s father and brother died from prostate cancer. Her brother was 67 and was diagnosed late on in his disease. Davina’s father was diagnosed at an early stage by chance when he was 45 years old. He lived until the cancer returned when he was 92.

Davina’s mother and aunts also died from cancer, ovarian and breast. Due to this family history of cancer, Davina was sent for genetic testing. In February 2017 she found out she had the BRCA2 genetic mutation.

“This was really difficult for me, I think I struggled with it more than with my cancer diagnosis. This could affect my whole family, and I may have passed this gene down to my children.”

The BRCA2 gene was discovered by scientists at the ICR in the 1990s and found to greatly increase the carrier’s risk of developing ovarian and breast cancer as well as marginally increasing the risk of prostate, lung, pancreatic cancer and melanoma.

The discovery of the BRCA1 and BRCA2 genes has been a huge step in the prevention and early diagnosis of breast and ovarian cancer, with women being offered regular monitoring or preventative surgery, which brings their risk of the cancers down to almost zero by removing their breast tissue and ovaries.

A new way for treating BRCA2 cancers

The discovery of BRCA2 was also a critical step in the development, 10 years later, of a new form of therapy targeted at BRCA associated cancers – PARP inhibitors.

Olaparib, which is perhaps the best known of the PARP inhibitors and came about through underpinning research at the ICR, has been approved for the treatment of advanced ovarian cancer.

The targeted drug has been helping women live much longer with ovarian cancer, while maintaining a higher quality of life than on traditional treatments like chemotherapy. Clinical trials are currently looking into olaparib’s effectiveness at treating women with breast cancer, and men with prostate cancer.

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A family affair

Once Davina knew she was a carrier of the BRCA2 gene, she informed other members of her family.

“I have a very large family, after a lot of consideration and discussions with my doctor, I sent 17 letters out to members of my extended family. I felt like the bringer of bad news, but at the same time I realised the importance of what I was doing. I spent a lot of time over the letters, making sure that I got them right.”

One of Davina’s cousins, David, replied to her letter. He had gone to the GP to get checked following the letter and whilst he was waiting to be referred for genetic testing he had a PSA test.

David’s prostate cancer diagnosis

David was diagnosed with early stage prostate cancer.

“David thanked me for sending the letter out. He was so grateful he had been prompted to get checked, he hadn’t had any symptoms yet, and his cancer was very early stage. He was so thankful that he hadn’t found out too late. This made me realise the power of being informed about your cancer risk and being empowered to take proactive steps.”

David’s fears echoed Davina’s: “When I received the letter I was most worried about my family, as I have three middle aged daughters, that’s what really pushed me to get tested.”

David had 37 radiotherapy sessions, and is now on hormone treatment. His PSA is down to 0.04 and he is doing really well.

“My BRCA2 results came back negative, which is great news for me and my family. It was just a coincidence I had prostate cancer at the time.

“I am so grateful to Davina for her letter encouraging me to get checked. I didn’t have any idea until then that the BRCA2 gene increased men’s risk of a prostate cancer, I don’t think this is widely known yet, and awareness needs to be raised so men are aware of their risk.”

Davina’s breast cancer

As the BRCA2 mutation also increased the risk of Davina developing breast cancer to 69% before the age of 80, she went for a preventative double mastectomy a few years after her treatment finished.

“When they did the mastectomy, they found out that I already had early stage breast cancer, a type known as ductal carcinoma in situ. As it was found early I needed no other treatment other than the surgery.

“If I hadn’t known about my BRCA2 mutation, I may not have found the breast cancer until it was much later on. I may have needed more treatment, or worse. I had nothing to indicate I had a tumour there. Finding it early was a blessing.

“It just shows, as much as knowing I am a carrier fills me with guilt and has been very difficult for me to deal with, knowledge is power. With this information we can be proactive in lowering our risk of cancer ourselves by taking preventative measures and regular monitoring.

“We can also be more aware of our bodies and health to ensure any cancer that does develop is picked up early. Which is priceless.”

The next generation

Davina’s children have also been given the news of her BRCA2 mutation. Both of her daughters are not carriers of the gene but her son, discovered he is a carrier, which has hit Davina hard.

“I was gutted by this news, as a mother you do all you can to protect your children, however, now he has the knowledge, he also has the power. He will be monitored closely now. He has been incredibly supportive and now he is BRCA aware, he understands his risks and how to keep on top of his health.”


breast cancer prostate cancer BRCA ovarian cancer olaparib Patient stories
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