In focus: hereditary ovarian cancer - genetic testing

[OvacomeSupport]

Hello, everyone

This month in our ‘Health in Focus’ posts, we’re looking at hereditary risks for ovarian cancer and genetic testing. We’re often asked about these topics in our support service and hope that these posts will be a helpful starting point if you want to explore them further. In this post, we’ll look at the different situations in which people may seek genetic testing and how they can access it.

If you think that you may have inherited a mutation that increases the risk of ovarian cancer, you may be able to have genetic testing to find out. Some people want to know about any mutations so that they can be well informed and consider their options. Others prefer not to know because of the anxiety that the knowledge could cause them. If members of the same family have different views on this, it can be a complex situation to navigate.

If you have been diagnosed with ovarian cancer and started treatment, genetic testing and counselling may be available through your hospital. Whether or not you have a BRCA mutation affects your treatment options, as the PARP inhibitor olaparib is currently only available first line to people with one of these mutations. We provided an overview of availability of PARP inhibitors in a previous post at healthunlocked.com/ovacome/...

If you’ve been diagnosed with ovarian cancer and are considering private genetic testing, it’s important to first discuss with your team whether the results are likely to affect the treatment options available to you. Although there are some tests available privately that aim to identify the drugs that would be most effective for an individual on the basis of the mutations that they carry, the research into this kind of personalised treatment is currently at a very early stage. It may therefore not be helpful to have further testing, unless your team advises you otherwise. Research is being done to develop this type of individualised treatment, so more options may be available in the future.

If you’re considering genetic testing because a relative has tested positive for a mutation or because of a history of cancer in your family, the first step would be to speak to your GP. Ovarian Cancer Action also have a risk tool on their website that you can use as a guide to your own level of risk, which you can find at ovarian.org.uk/risktool/

If your GP thinks that you may meet the criteria for genetic testing on the NHS, they will refer you to a specialist genetics clinic. You’ll see a genetic counsellor first to go through your family history in more detail and, if you are eligible, to discuss testing. This is to help you understand the possible results of the tests and what they could mean for you and also for other members of the family.

If you’re eligible for the test and, after counselling, decide to be tested, you will have a blood sample taken. If you’re being tested because a relative has tested positive for a mutation, the results usually take about two weeks. If you’re being tested because of a family history but no one else in the family has been tested, the results will take longer (4-8 weeks or possibly more) because the laboratory don’t know which mutation they’re looking for. You can read about the testing process in more detail at ovarian.org.uk/ovarian-canc... you’re not eligible for NHS genetic testing for mutations that could increase your risk of cancer and want to be tested, it is possible to use a private provider. You can find more information about this at cancerresearchuk.org/about-...? If you do decide to have private genetic testing, it’s important to make sure that you understand which genes are being tested for and that genetic counselling is included in the price.If you’ve been found to have a genetic mutation, some of your family members may also have inherited the mutation. It doesn’t mean that they will definitely develop cancers, and they will need to decide whether they want to be tested for the mutation or explore other options such as available screening.

This guide to BRCA mutations from the Royal Marsden NHS Foundation Trust includes information from page 17 onwards about talking to family members and their options: shared-d7-royalmarsden-publ... Although it focuses on BRCA mutations, much of the information about what the results mean for family members will be relevant to other mutations as well.

For those who have inherited one of the BRCA or Lynch syndrome mutations, or if family history strongly suggests that risk is increased, it may be possible to have risk-reducing surgery, for example to remove ovaries and fallopian tubes. It may also be possible to have monitoring by regular CA125 tests or ultrasound scans. There is no nationwide screening programme for ovarian cancer, but there may be monitoring available as part of a research study.

There are also lifestyle changes which can support general health and reduce the risk of cancer, such as maintaining a healthy weight and not smoking. There is more information on reducing ovarian cancer risk at ovarian.org.uk/ovarian-canc... There are also Ovarian Cancer Action webinars about risk-reducing gynaecological surgery at youtube.com/watch?v=LO6k4nx...(Not working as expected?), mastectomy at youtube.com/watch?v=BBqQwPu...(Not working as expected?) and research into risk at youtube.com/watch?v=_ObYvC2...(Not working as expected?)

As we mentioned above, inheriting a mutation doesn’t mean someone will definitely get cancer. Without a mutation, the level of risk is the same as the general population.

If you would like to share your experiences of genetic testing, please comment on this post. If you would like information or support, please contact our Support Line on 0800 008 7054 or email [e-mail].

Best wishes

Julia (Ovacome Support Services Officer)

[sticky3006]

Thank you for the information, sticky3006.

[Doglover1410]

I was offered it on 2005 when at 37 I had breast cancer. After a lot of thinking and talking I was one of those that thought the anxiety would be too much, felt like a time bomb ticking. Sailed through to 2017 and had OC, had the test and BRCA2 +!

If I had my time again would I do it differently? Possibly, but I don’t know! Have had moments of ‘well, this is my own fault for not doing it’ but can’t change it so not point worrying

[OvacomeSupport Partner My Ovacome Team in reply to Doglover1410]

Hello Doglover1410

Thank you for sharing your experience of being diagnosed with BRCA2 genetic changes. It's such an individual choice to be tested and all anyone can do is take the best decision for them with the information they have at the time, as you did in 2005 and 2017. If you need any further information about BRCA2 please do get in touch with us.

Best wishes

Anna

Ovacome Support

[Wonnie]

What super information, thank you.

I had genetic testing in my mid 30s due to a cancer-ridden family history and the identification of a BRCA1 mutation in an aunt. I found the test empowering, it enabled me to continue to make use of screening which would have been odd to walk away from. I even went on to have a 3rd child because I knew that I would have all the preventative surgery available.

Both preventative ovarian and breast surgeries were not mentally difficult because I felt like I was in control. I had watched my own mum get both and die aged 49.

The shocker came at aged 47 when I got Primary Peritoneal Cancer - the very rare chance after all the surgeries. With hindsight, I would have continued with CA125 testing.

If my own children have BRCA mutations, I will advise them to have their own children (if they want them) using IVF to screen out BRCA. That way they can protect future generations.

Siobhan

[OvacomeSupport Partner My Ovacome Team in reply to Wonnie]

Dear Siobhan

Thank you for sharing your experience of managing your risk after testing positive for a BRCA1 gene mutation. I'm very sorry to hear about the death of your mother.

As your experience shows, preventative surgeries significantly reduce the risk but unfortunately they don't eliminate it completely. If you need any information or support on BRCA1 or primary peritoneal cancer please do get in touch with us. You may find our booklet on primary peritoneal cancer useful if you've not seen it already: ovacome.org.uk/primary-peri...

I hope this is helpful.

Best wishes

Anna

Ovacome Support