Genetic Testing with Ovarian Cancer

Eligibility for genetic testing

If you have a high-grade serous epithelial carcinoma you are automatically eligible for BRCA1/2 genetic testing.

In March 2024, the new NICE guideline NG241 simplified eligibility for genetic testing to include all invasive epithelial ovarian cancer.

The list of eligible types of ovarian cancer has also been broadened to include: ovarian Sertoli–Leydig cell tumour, small cell carcinoma of the ovary hypercalcaemic type, ovarian sex cord tumour with annular tubules, embryonal rhabdomyosarcoma of the ovary and ovarian gynandroblastoma.

Note: NICE guidelines are followed in England and Wales. In Northern Ireland there is a set process by which the Department of Health in Northern Ireland review NICE guidelines and assess whether they are appropriate to implement, which is currently to be confirmed.

If they haven’t already talked to you about it, you can ask your cancer team about testing. Together you will decide whether you are to be referred to a local genetics team or offered a genetic test.

A referral to a genetics team may not be needed if you are being cared for in a hospitals that offers genetic testing as part of your cancer care.

In these hospitals you may be asked whether or not you would like to have a genetic test by a nurse, doctor or other healthcare professional. Speak to your clinical team to find out how they offer genetic testing.

If you are to be offered genetic testing, NICE guideline CG164 1.5.2 recommends pre-test counselling. This allows you the opportunity to discuss the potential risk and benefits of genetic testing, the chances of finding a gene fault (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 gene testing.

For links to information and resources to help you, see our resources page.

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 fault so they can take it into account when considering options for your treatment and/or clinical trials.

Currently women with a BRCA1/2 gene fault 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 fault.

For example, BRCA1/2 gene fault carriers with ovarian cancer receiving standard platinum treatments have higher response rates and longer times to relapse than women with non-hereditary ovarian cancer.

Studies are currently researching how BRCA1/2 gene fault related tumours respond to both standard treatments and to new agents that are designed specifically to target the BRCA1/2-mutated cancer cells.

In 2016, a drug called Olaparib was approved for women with a BRCA1/2 gene fault facing a second recurrence of ovarian cancer. This new class of drug, known as a PARP inhibitor, can delay the progression of the disease by up to two years. You can read more about targeted treatments such as PARP inhibitors and current eligibility here.

Clinical trials

Once standard treatments have been tried it’s possible that your oncologist will recommend you for a clinical trial. It is also possible that there may be a clinical trial available that is specifically tailored to women with a gene mutation.

It is important to note that availability of these trials is patchy so you will need to discuss options with your oncologist.

You can also look online for current trials at clinicaltrials.gov

If you have any questions please contact info@ovarian.org.uk.