If you are diagnosed with high-grade serous ovarian cancer you should be offered a genetic test to see if you have a mutation in the genes BRCA1 and BRCA2.
A BRCA1/2 gene mutation increases a woman's risk of a developing breast and ovarian cancer. You should be offered a BRCA test after you're diagnosed because your BRCA status can affect your treatment options. Also, BRCA mutations are genetic – they can be inherited from either parent and can be passed down to your children. Knowing that you carry one will give your family the option to get tested for a BRCA gene mutation as well.
Here’s what you need to know about genetic risk when you've been diagnosed with ovarian cancer.
What are BRCA gene mutations?
Our genes are the instructions that spell out how to make proteins, which are the building blocks of our body. They are an instruction manual that defines how our bodies work. A mutation in our genes is like a spelling error in that manual, and that alters the function of the gene.
Every one of us has BRCA1 and BRCA2 genes. We inherit two copies, one from each of our parents. They are called tumour suppressor genes and their job is to repair damage in cells and prevent them from growing and dividing too rapidly. Mutations in these genes can cause cells to become abnormal and grow in an uncontrolled way.
Having a mutation in either BRCA1/2 genes can increase a woman’s risk of both breast and ovarian cancer – the “misspelling” in the gene stops the protein from working and the body cannot control cell growth in a normal way.
These mutations can be inherited and passed on from a mother or father.
Click here to read more about BRCA gene mutations.
Getting tested at diagnosis
All women who are diagnosed with high-grade serous ovarian cancer should automatically be offered a BRCA test.
If your medical team haven’t already talked to you about it, you can ask them about testing. Together you will decide whether you are to be referred to a genetics centre or offered a BRCA genetic test.
A referral to a genetics centre may not be needed if you are being cared for in hospitals that offer BRCA genetic testing as part of your cancer care. Hospitals that currently offer this include Hammersmith Hospital, the Royal Marsden (through the Mainstreaming Cancer Genetics Initiative), the Christie and Addenbrookes. In these hospitals you may be asked whether or not you would like to have a BRCA1/2 genetic test by a nurse, doctor or other healthcare professional. Contact your local hospital to find out if they offer BRCA1/2 genetic testing. The West Midlands Regional Genetics Service is also running a similar pilot with hospitals in that region so please discuss with your medical team.
If you are to be BRCA1/2 genetic tested, NICE guideline CG164 1.5.2 recommends pre-test counselling. This allows you the opportunity to discuss the potential risk and benefits of BRCA1/2 genetic testing, the chances of finding a mutation, the implications for you and your family, and the different types of test results.
You should also have the chance to ask questions to help you make the decision about whether or not you wish to have BRCA1/2 gene testing.
How will my BRCA1/2 status affect my treatment?
It’s useful for your oncology team to know if you have a BRCA1/2 gene mutation so they can take it into account when considering options for your treatment and/or clinical trials.
Currently women with a BRCA1/2 gene mutation are given the same chemotherapy treatment as women without a genetic predisposition and, in some cases, this treatment can be more beneficial to carriers of a BRCA1/2 gene mutation.
For example, BRCA1/2 gene mutation carriers with ovarian cancer receiving standard platinum treatments have higher response rates and longer periods of progression free survival than women with non-hereditary ovarian cancer.
Studies are currently researching how BRCA1/2 gene mutation related tumours respond to both standard treatments and to new agents that are designed specifically to target the BRCA1/2-mutated cancer cells.
If you would like to find out more about genetic testing, visit our Hereditary Hub. It has everything you need to know about BRCA gene mutations – including information about testing and counselling services, talking to your family about genetic risk, and where to go for support.