Over the last 20 years, we have learnt a lot about genes and how they link to cancer. Knowing about genetic alterations and cancer risk can help you and your family make important decisions about cancer prevention or care.
Who can access genetic testing?
Genetic testing is an option on the NHS for most people diagnosed with a cancer that may be hereditary (when a higher risk of certain cancers is passed down through their family). It is also an option for people with a close family member that has a gene alteration, such as a parent, sibling or child. If you or a family member has been diagnosed with breast, ovarian or womb cancer, you should ask your cancer team or GP about options for genetic testing. You can also contact Ask Eve for more information.
BRCA testing is available in England for all people with Jewish ancestry, from any origin. You can find out more about this and how to access testing at jewishbrca.org/
Anyone with a first degree relative (mother, daughter, or sister) or second degree relative (grandparent, grandchild, aunt, niece, or half-sister) with an ovarian cancer diagnosis will be eligible for genetic testing.
Genetic testing may also be available for people thought to be at a high risk of a hereditary cancer. Such as people with a family history of related cancers. If you have a history of breast, ovarian and prostate cancer in one side of your family, or bowel, womb or ovarian cancer, speak to your GP about genetic testing. You can also contact Ask Eve for advice.
What does genetic testing involve?
Your medical team will decide on the best test for you. This will depend on your specific circumstances. For testing for a BRCA gene alteration, there are three main tests used:
1 – Taking a blood sample
This looks for inherited gene alterations (known as germline). The results may have implications for family members as well as for the person being tested.
2 – Taking a sample of saliva
This also looks for inherited (germline) alterations. It involves giving a sample of saliva. This can be done at home with a kit.
3 – Testing the cancer tissue
Known as somatic testing. This involves extracting DNA from the tumour itself. If this test shows a gene alteration, then a blood or saliva test will be needed to confirm if it is genetic.
How long do results take?
The time it takes to get your results will depend on the type of test you had and your circumstances. It can take between two weeks to two months to get your results.
Your results should always be given to you by a health professional – usually a genetic counsellor, but in cancer care a trained member of the clinical team can explain your results.
What do my results mean?
Your results can include a lot of new language. Some of the common terms you may see or hear include:
- Pathogenic: Sometimes called ‘positive’. This means you have a gene alteration that is very likely to be cancer-causing.
- Likely Pathogenic: The test shows an alteration that is likely to be cancer-causing.
- Variant of Uncertain Significance: The test shows an alteration that is known but isn’t yet linked to cancer. These results should not affect your care. It may be that in the future, more becomes known about this alteration.
- Likely Not Pathogenic: Sometimes called ‘negative’. This means the test shows a gene alteration that is unlikely to be cancer-causing.
- Not Pathogenic: The test shows an alteration that does not cause cancer.
- A Variant of Unknown: If your results show a variant of uncertain significance, your clinical team will probably treat this as a negative result. However, they will note the findings in your patient record.
If in the future your gene alteration is found to be cancer-causing someone will contact you. They will discuss what this means and any implications with you.
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Information updated: November 2024. Next review due: November 2027
More information
For more information on genetic testing in ovarian cancer specifically, download our guide. You can also speak to our Ask Eve nurses for free to chat about any worries or questions.
