Understanding Ovarian Cancer: Early Detection, Genetic Testing, and Prevention
Every day, 11 women in the UK lose their lives to ovarian cancer. This disease claims more lives than all other gynaecological cancers combined. Tragically, most cases are diagnosed at an advanced stage—stage 3 or 4—where the survival rate for stage 4 is a mere 15%. However, if detected early, at stage 1, the five-year survival rate soars to 95%.
Ovarian cancer is shrouded in myths and misconceptions, leading to a lack of awareness among both women and healthcare professionals about effective prevention and early detection methods. With advancements in science, we now have the tools to detect this disease early and, in some cases, prevent it altogether, significantly improving survival rates.
This video is essential viewing for anyone with a family history of ovarian cancer, anyone with ovaries, or anyone who cares about someone with ovaries. Join us as we dispel myths, spread awareness, and empower you with life-saving knowledge about ovarian cancer.
Genetics of Ovarian Cancer
Let’s first talk about the genetics of ovarian cancer.
About 20% of ovarian cancers are caused by a genetic variant inherited from a parent. You might have heard people describing this as having inherited a “gene mutation” or “faulty gene”.
The most common genes involved in this are BRCA1 Or B-R-C-A-1 and BRCA2.
If you have inherited a harmful copy of one of these genes, we medically call this having a “pathological” variant. For patients, this might mean your risk of ovarian cancer might be up to 60% in your lifetime. BRCA1 and 2 are not the only genes which are linked to ovarian cancer, there are other genes which are less common and carry different risks.
Angelina Jolie famously shared her story of finding out about her BRCA 1 mutation in 2013 in the New York Times. I think she really helped to open the conversation around genetic screening for lots of women. She had sadly already lost her mother to cancer, who was diagnosed with breast and ovarian cancer. Angelina Jolie chose to have risk-reducing surgery. Since then many other women have followed in her footsteps, talking about their genetic mutations and surgical decisions such as Christina Applegate, Sharon Osborne and many not so close to Hollywood like me.
So who should have genetic screening?
I want to share the words of Dr Mary-Claire King, she is the scientist who first identified the BRCA1 gene in 1990.
She says “To identify a woman as a carrier only after she develops cancer is a failure of cancer prevention,”.
I whole heartedly agree with her. Despite the passing of decades since the discovery of the BRCA1 gene far too many people only find out they carry a gene after a cancer diagnosis in themselves or someone they love.
Over 95% of women who have inherited a harmful variant in BRCA1 or BRCA2 are undiagnosed in the UK. That’s hundreds of thousands of people who don’t know they are at high risk of cancer, ovarian cancer, plus breast cancer and more.
I am extremely fortunate to have been able to access private genetic screening. And I am passionate about bringing this option to more patients and am proud we are able to offer this at Coyne Medical. We can take a sample in clinic after talking through the options, we usually test for multiple cancer genes linked to several cancers including ovarian, breast, colon and more. We only test for genetic changes which are linked to proactive steps you can take to reduce your risk. Such as recommendations for extra screening or checks.
But I know that is not an option for all patients, so I was also delighted that in March this year, the guidelines on NHS funded testing were updated by NICE. They now recommend that anyone who has a family history of ovarian cancer in a first or second degree relative be considered for genetic testing.
A first-degree relative is for instance parent or sister. A second-degree relative is much broader and includes grandparents, aunts, nieces or half-sisters. This includes relatives on either your mum or dad’s side of the family. So if private testing is not an option for you do speak to your GP about the new guidelines. In the past it may be that you were denied testing on the NHS but could now be eligible.
What if you don’t have any family history of ovarian cancer?
Yes, you can still have genetic screening. Traditionally we have only screened patients with a family history. We know from large studies on breast and ovarian cancer that if we only use the family history criteria we will miss over 50% of people with a pathological mutation in BRCA1 or BRCA2. So if you really want toif you want to get serious about optimising your cancer screening and prevention we think genetic screening is crucial. You don’t want to be one of the patients that only find out after they get cancer, knowing you might have been able to prevent it earlier.
Personally, I know the truth behind the statistics. I tested positive for a pathological variant in a gene called PALB2 in 2021. It puts me at increased risk of ovarian cancer and breast cancer. I did not meet the traditional criteria for genetic testing and would not have known without choosing to have private genetic screening. I feel incredibly lucky I found my gene mutation while I was completely healthy, instead of after having a cancer. I have been able to join Angelina Jolie in choosing preventative risk-reducing surgery. To know my risk and then take action to reduce my risk of cancer feels like a very special gift. I would love to see more women share this.
Could a family history of other cancers be linked to ovarian cancer?
Yes, many of the genes that increase the risk of ovarian cancer are linked to other cancers.
If your family history includes breast cancer, pancreatic cancer or prostate cancer. Those are all flags that you have a higher chance of having inherited a gene mutation. We would certainly encourage you to consider genetic screening.
And it’s not just women. We would also encourage men with a family history of these cancers to consider genetic screening. Finding a gene mutation will help us manage their health risks and cancer screening. But it will also potentially help their daughters, granddaughters, nieces, sisters…
MYTH is that: “It doesn’t matter as there is no family history on my Mum’s side.”
Wrong. You can inherit these gene mutations from either your mother or father.
Women who inherit from their Dad are more often missed. Men are less likely to get breast cancer and can’t get ovarian cancer. So for their daughter their family history often appears less worrying. The same is true for people from small families. A history of cancer in a grandmother or aunt on Dad’s side of the family, is often not talked about or not seen as a big risk factor. I would encourage everyone to find out the most they can about their family history. During the dark days of the first lockdown I started researching my family tree which has been fascinating. After I discovered that I had a gene mutation I searched in more detail and got a copy of my great grandmother’s death certificate, this showed she had died from breast cancer in her 40’s. I almost certainly inherited my mutation from her. So get talking to relatives if you can or use the wonders of the internet to do a bit more research. Of course, we focussed on ovarian cancer today but family history of all cancers as well as other diseases such as heart attacks are also really important information.
Do you have any Jewish ancestry?
Having a parent or grandparent of Jewish ancestry is a big risk factor for inheriting a BRCA1 or BRCA2 genetic variant, up to a 1 in 40 chance. We would recommend all people with this risk factor use genetic screening to find out if they carry a high-risk mutation. The NHS has recently started a project offering testing for gene variants in only the BRCA1 and BRCA2 genes, as these are the genes which are more commonly mutated in those with Jewish ancestry, if you’re interested you can find out more about the project online and I’ll put the link to that in our notes.
How does finding a high-risk ovarian cancer gene help you prevent cancer?
Some women will opt to have their ovaries and fallopian tubes removed. Especially if they have already entered menopause, you could say they are no longer serving any purpose so why keep them and add to your cancer risk?
The decision can be more difficult for younger women, for whom surgery will bring on an early menopause and impact on their choices for fertility. It is important that women in this scenario get the best advice on which option is best for them. And their options for pregnancy in the future.
There is a brilliant UK study called “Protector”, it is led by Professor Ranjit Manchanda, who is a great advocate for increasing access to genetic screening for women. The study offers women who want to keep their ovaries the option of removing their fallopian tubes only initially, followed by removal of the ovaries at a later date. We know many ovarian cancers start at the end of the fallopian tubes where they meet the ovaries. The study wants to show this option can help women who wish to delay their surgery, so this option could help reduce risk without the negative impact of menopause in younger women. Both surgical options are big decisions, and need careful thinking through the pros and cons so each woman can find the right decision for her health. Thankfully the actual surgeries are usually laparoscopic or keyhole operations, and can usually be done as a daycase procedure.
Can I do anything else to prevent ovarian cancer?
Yes, there are lots of factors we can focus on to reduce the risk of ovarian cancer. And they will also reduce your risk of lots of other cancers such as breast and colon cancer. Keeping a healthy weight and not smoking are the two biggest risk factors which you can control. The combined oral contraceptive pill also reduces risk, even if only taken for a short period of time. The protection from taking the pill also persists, so the positive benefit continues for several years after stopping the pill. For high-risk women though such as having a BRCA1 or 2 mutation the combined oral contraceptive increases the risk of breast cancer so it may not be suitable as an option. Breastfeeding is protective for ovarian cancer risk, with a 24% risk reduction. I know personally breastfeeding can be really challenging, certainly the hardest part of life as a new mum with my first baby. So I am really conscious of not adding to the mummy guilt with this but if you have a family history it is good to know that this choice could have a positive impact on your own health. Having children reduces the chance of having ovarian cancer. Of course not alone a reason to have a baby! There has been a lot of concern about using talcum powder on the genital area and ovarian cancer, the evidence is mixed but it is sensible to avoid this.
Early Detection
But now let’s think about early detection. For those cancers we can’t prevent, we need to diagnose them as early as possible. Early diagnosis is vital. Sadly two-thirds of women are diagnosed at a late stage.
If we can diagnose women early at stage 1 the survival rate is over 94% at 5 years, versus only 16% for women diagnosed at stage 4. So how can we screen you for ovarian cancer and detect it early?
For women who do not have a high-risk gene mutation we don’t routinely recommend all women using ultrasound or the CA125 blood test for ovarian cancer screening because the biggest UK trial didn’t show this could improve survival in women. They studied over 200,000 women over about 16 years, split into 3 groups, no screening, screening with an ultrasound scan and screening with an ultrasound scan and a blood test for CA125. The results showed women screened with an ultrasound and the CA125 blood test did seem to be diagnosed with cancer at an earlier stage, but they couldn’t show this saved a significant number of lives. We know the CA125 blood test is not perfect, it can give “false alarms”, as other conditions like endometriosis or fibroids can cause high CA125 levels too.
But the results were different in women who have are at “high risk” such as with a BRCA gene mutation, they are now recommended to consider regular screening with CA125 blood test and a special algorithm for monitoring their results called ROCA. The test has been available privately for some time but this is a new recommendation in 2024 for the NHS and not yet easily available nationally but hopefully this will change soon. The ROCA test has been show to detect ovarian cancer earlier, before symptoms appear. For high-risk women they can have this done 3 times a year, the results will be tracked and if a significant increase is noted this will prompt more tests. This might be a good option for high-risk gene carriers to consider, especially if you have decided against surgery or are waiting to have done at an older age.
Are there are any other ways of screening for ovarian cancer?
Yes we now have a new blood test that can be used to screen for ovarian cancer. It uses a normal blood sample taken in the clinic and the laboratory to look for ‘circulating tumour cells’, (CTCs). When a cancer or ‘tumour’ starts to grow in the body some of the cells will get into the bloodstream called CTCs. The really exciting part of this is that these CTCs can be found in early-stage 1 cancers.
The blood test is called a Multi Cancer Early Detection test, we offer tests by Trucheck that can either focus on female cancers, including breast and ovarian cancer, or we can screen for up to 70 solid organ tumours. We offer this test at Coyne Medical, always after a full consultation with the doctor to understand if it’s the right test for you. We always want to make sure that patients are up to date with their standard cancer screening as these newer tests should be seen as a great optional add-on.
Likewise we also use whole-body MRI scans as an add-on cancer screening tool. These scans from from head through the neck, chest and abdomen to the pelvis. In the pelvic area they can detect cysts or fluid which can indicate an ovarian cancer. In large studies of whole-body MRI the rate of detecting a cancer is 1 to 2% in healthy adults over 40, but this has to be balanced against finding small ‘abnormalities’ which can cause stress and need further checks. That’s why it’s important you go through the possibilities with your doctor before testing. As well as making sure your doctor is there to support you through the results and any follow-up.
MYTH: “A smear test checks for ovarian cancer.”
This is sadly common, about 1 in 4 women think this is true but sadly not. Cervical screening will not detect ovarian cancer. Though it is a really important cancer screening to make sure you are up to date with.
Knowing the symptoms is key for every woman
Symptoms to watch for include:
- Persistent increase in abdominal size or bloating (not bloating that comes and goes)
- Persistent pelvic and abdominal pain
- Unexplained change in bowel habits
- Difficulty eating and feeling full quickly, or feeling nauseous
- Needing to urinate (wee) more regularly
Other symptoms can include tiredness, losing weight, pain during sex, and back pain. These can be symptoms of many other conditions too so don’t panic but see your doctor. Your doctor might check a blood test called CA125 and you may also need an ultrasound scan.
Knowledge is Power
Knowledge is power, yet many women and doctors are not well-informed about ovarian cancer. A study by Target Ovarian Cancer found that less than 5% of women felt confident recognizing its signs. Surprisingly, many doctors also mistakenly believe that symptoms only appear in the late stages of the disease.
We’re committed to empowering women with the knowledge they need to make informed health decisions. If you know other women who could benefit from this information, please share it with them. Together, we can spread awareness and equip more women with the knowledge they need.
Follow us if you’d like to learn more about disease prevention and early detection.
Dr Lucy Hooper
Private GP
Coyne Medical
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