More than 20 years have passed since scientists discovered that faults in two key genes – BRCA1 and BRCA2 – significantly increased the risk of breast and ovarian cancer. Since then, huge advances have been made in our understanding of these mutations and how drugs designed to target them can help to prevent and treat cancer.
People with a family history of breast and ovarian cancer can now be tested for the faults, and if found to have one of the two mutations they can be closely monitored for signs of cancer or opt for surgery to remove their breasts or ovaries as a preventative measure.
We now know that approximately 1 in 800 people have a fault in the BRCA1 or BRCA2 gene. But the genetic faults are much more common in people who have Ashkenazi Jewish heritage, with 1 in 40 Ashkenazi Jews believed to have BRCA mutations.
As part of Ovarian Cancer Awareness Month, Nikki Brady spoke to two Ashkenazi Jewish women from Leeds about their experience with cancer and being tested for the genetic faults.
“The research that led to the identification of the BRCA genetic mutations has potentially saved my life. It’s essentially helping to prevent me getting cancer,” says Rochelle Gold, 38.
Rochelle’s mum, Phyllis Harris, was just 64 when she passed away from breast cancer. Phyllis’s own mother had suffered from breast cancer, and her father had also died from cancer.
Phyllis had been a supporter of Yorkshire Cancer Research for many years as a member of the charity’s Leeds Jewish Committee, helping to raise thousands of pounds for research into the disease.
From standing outside Marks and Spencer’s with a collection tin, to taking part in arranging big events, Phyllis dedicated a huge part of her life to helping achieve the advances in medical research that are now helping her family. She and her husband even asked their friends and family to donate to Yorkshire Cancer Research when they had a party to celebrate their ruby wedding anniversary in 2011.
“Mum always worried that she would get breast cancer because her mum had had it. She went to her GP and he told her not to worry as it wasn’t genetic, that breast cancer is like a lottery and that someone points their finger and says ‘it’s you’,” Rochelle explains. “But that isn’t the case and if he had asked her about her family history he would have found that two of her aunties had also had breast or ovarian cancer and that she should be referred to genetic testing to see if she was at risk.”
Phyllis wasn’t referred and a few years later in September 2013, she was diagnosed with breast cancer. It was only at this point that she was offered genetic testing.
After undergoing chemotherapy and radiotherapy, Phyllis was tested for the BRCA mutations and found out she had faults in both the BRCA1 and BRCA2 genes. She was given the ‘all-clear’ from cancer in September 2014.
Following the discovery of the genetic link, Rochelle decided to be tested too, and in August 2015 she received a positive result for the BRCA2 mutation.
“I don’t know if I’m different to other people, but it was a relief for me. It meant I had the opportunity to do something to reduce my risk of getting breast cancer. I always said that if I had the fault I would have preventative surgery. I’m quite risk averse, and I just wanted to get rid of any body part that could develop the disease.”
In September 2015, Phyllis became very unwell. She was referred back to St James’s University Hospital, where she was told she had secondary tumours, mainly in her liver.
Rochelle said, “They told her that it would kill her. Two weeks later she died. The cancer was extremely aggressive, and although they did try to give her chemotherapy, there was nothing they could do. I’d already decided that I would have surgery, and mum dying cemented that. I know that there are amazing ways they can treat cancer these days, but there was never any question of what I was going to do.”
Rochelle underwent a double mastectomy in April 2016. She is being monitored for ovarian cancer through regular CA125 blood tests and ultrasounds, but she has arranged to have a full hysterectomy later this year. Rochelle has opted for a full hysterectomy rather than just having her ovaries removed as it means she will only need to take one type of hormone replacement therapy. Those who only have their ovaries removed need to take two different types, one of which would slightly increase her risk of breast cancer.
Before the operation to remove her breasts, Rochelle’s lifetime risk of developing breast cancer was around 85%. After her hysterectomy it will reduce to 5% – lower than the general population’s risk, which is estimated to be 12%.
“The good thing about the operation I had is that you are never without breasts. You have them reconstructed at the same time. I woke up relieved and elated. Mum’s breasts had killed her, but mine were gone. It was over and I was okay.
“I’ve had my children and I’ve breast-fed them. I don’t think that my breasts and uterus are what makes me a woman. They’re just parts of my body that have served their purpose and I don’t need them anymore.”
Rochelle is now eager to spread the word about the high risk of BRCA gene faults in the Jewish community in Leeds. She estimates there are around 250 Ashkenazi Jews living in Leeds that could have the genetic mutations. She is one of a group of Jewish women who have formed the organisation BRCA Journey, which aims to provide support to women throughout their experience, raise awareness in the community through local events and raise awareness amongst GPs.
“There has to be something good that comes from what we’ve been through. I’m very driven by a feeling that if we had known about the BRCA mutation earlier, we could have done something before mum got cancer. She could still be here,” Rochelle says. “I would strongly urge anyone of Ashkenazi Jewish heritage, with a strong history of cancer, to look into genetic testing.”
Rochelle with her mum, Phyllis, on her wedding day
It’s thanks to a heightened awareness among Ashkenazi Jewish people that Hilary Tammer, a friend of Phyllis and a fellow Yorkshire Cancer Research volunteer, decided to undergo genetic testing herself.
Hilary was diagnosed with stage 1 ovarian cancer at the age of 53 in February 2001. She had woken in the middle of the night and had difficulty passing urine. Following a visit to her GP the next day, she was referred to hospital.
“I believe that my GP’s quick action in referring me to a urologist and then a gynaecologist played a huge part in saving my life,” Hilary says.
A blood test showed that she had an elevated level of the protein CA125, which can be a sign of ovarian cancer. Scans revealed tumours in her ovaries and she underwent a hysterectomy. But it wasn’t until after this operation that she was told she had cancer and that she would be referred to an oncologist.
“Five weeks after surgery, I started a course of chemotherapy. Although I lost my hair following the treatment, it was a small price to pay for saving my life and within six months my hair started to grow again and was soon back to normal,” she says. “I continued to be monitored with regular CT scans and blood tests. These gradually became less frequent until I received the ‘all-clear’ five years later.”
Three years ago, Hilary felt a sharp pain in her back. She visited her GP and was again referred to hospital, where doctors found a tumour on her kidney. This time, Hilary opted for a pioneering treatment led by Dr Tze Wah at St James’s University Hospital. The minimally-invasive procedure involved cryoablation – a technique that uses extreme cold to kill cancer cells.
After her second experience with cancer, Hilary decided that she wanted to be tested for the BRCA gene.
She said, “I worried for my children. I have a daughter and a son, and my daughter has three daughters of her own. When I was diagnosed with ovarian cancer, I asked whether I should have the BRCA test. I’m a great reader and I try to keep up-to-date with medical developments. Having been a member and fundraiser of the Yorkshire Cancer Research Leeds Jewish Committee for nearly 46 years, I’ve always had an interest in the advances we are making in cancer research.
“At the time of my diagnosis, I was told that a BRCA gene test wasn’t necessary as no one in my family had been diagnosed with breast or ovarian cancer. It remained in the back of my mind, however. My late parents used to keep things to themselves. They didn’t even want to mention the word cancer. So it was difficult to know for definite that there wasn’t a family history.
“Thankfully we’ve come a long way since then and we now talk much more openly about our health. A meeting about BRCA testing was recently held at our Jewish community centre and I went along. I asked my daughter if she thought I should have the test and she said I must have it done. She realised it could affect her and her children.”
Hilary was asked to fill in a form with details of her family history, and was then referred to a genetics counsellor. After receiving more information about the test and its possible implications, she decided to go ahead. Two months later, Hilary received a letter informing her that she’d tested negatively for the two faults.
She said, “I fully expected to have the mutation. I was convinced that was the reason behind my cancer. So it came as a huge relief for me. I was nervous about opening the letter as I was concerned about what would happen next if I did test positive. The result put my mind at rest.
“I would definitely encourage other people to have the BRCA gene blood test. If your history is such that there’s some query or doubt whether or not you have the fault, then go and do it. And if I could now give one piece of advice, it would be to know your own body, listen to it and talk to others. There are so many organisations you can turn to for advice and help, and so much that can be done if your cancer is diagnosed early.”
Testing for the BRCA gene is only available to those aged over 18, so it will be a few years before Rochelle needs to worry about the affect her family genetics may have on her daughter, who is four, and son, two. By then, further advances may have been made in the treatment and prevention of BRCA-related cancers. In the last decade, it has become possible for those with a fault in their BRCA genes to undergo an IVF procedure to ensure their children do not carry the mutation.
“Essentially, you can eradicate the gene mutation. There’s a possibility that we could stop this thing altogether,” Rochelle adds. “When you lose someone through cancer, a part of you goes with them. If you can prevent that from happening, it keeps you whole, and keeps your family whole. I want to help to keep other families whole.
“So many family members and friends have now come forward to be tested. Mum would never want a fuss about her. She never wanted to be in the limelight. But thanks to the BRCA test, she’s now saving lives left, right and centre.”
BRCA mutations and the Jewish population
Cancer happens when abnormal cells divide out of control. BRCA1 and BRCA2 are examples of tumour suppressor genes, which produce proteins to help repair damaged DNA in cells going through normal division. These genes play an important role in maintaining the cell’s genetic material and protecting against cancer. If there is a fault in these genes, DNA damage may not be properly repaired and the carrier has a greater risk of developing cancer.
BRCA1 and BRCA2 mutations are now believed to be associated with an increased risk of breast, ovarian, prostate, pancreatic and skin cancers.
There is a 50% chance of a child inheriting the mutation if one of their parents carries the faulty gene and a 75% chance if both of their parents carries the fault gene. Members of the Jewish community who trace their roots to Central or Eastern Europe are known as Ashkenazi Jew, and have unique genetic traits which have been passed down through generations. Approximately 1 in 40 of all individuals of Ashkenazi Jewish ancestry have a mutation in the BRCA1 or BRCA2 gene, compared to 1 in 800 for members of the general population. Women and men of Ashkenazi Jewish descent are therefore eligible to have a blood test to see if they have a faulty gene even if they don’t have a relative known to have the mutation.
Of the estimated 270,000 British Jews living in the UK, 95% are likely to be of Ashkenazi origin. Yorkshire and Humber has a total Jewish population of 9,929, of which 6,847 are from the Leeds area (2011 consensus).
For more information about BRCA Journey, you can follow them on Facebook (brcajourney) and Twitter (@BRCA_Journey) or email firstname.lastname@example.org.
Sign and symptoms of ovarian cancer
Symptoms of ovarian cancer include:
- Increased abdominal size and persistent bloating
- Persistent pelvic and abdominal pain
- Difficulty eating and feeling full quickly
- Needing to wee more urgently or more often than usual
Sometimes women experience other symptoms such as back pain, fatigue and changes in bowel habits (diarrhoea or constipation).
Symptoms of ovarian cancer can be difficult to recognise, particularly when the cancer is at an early stage. This is because they can be the same as symptoms of other less serious conditions, such as irritable bowel syndrome (IBS) or pre-menstrual syndrome (PMS). However, if your symptoms are frequent, don’t go away and are not normal for you, please see your GP.