Interpreting your test results – what’s next?

What if my test is inconclusive?

BRCA 1/2 genetic testing does not always give a clear yes/no answer. Many different mutations have been identified in BRCA1/2 genes but not all have been linked with an increased risk of cancer. These mutations are known as ‘variants of uncertain significance’ (VUS).

Identifying a VUS means that an abnormality has been found in your BRCA1/2 gene test, but that based on available information, the specific mutation found has not been linked to an increased risk of developing cancer.

As we learn more about variants of uncertain significance some might be re-classified as being ‘clinically significant’ and hence associated with an increased risk of developing cancer. This information is constantly being updated according to NICE clinical guideline CG164 1.5.10.

If your test results show a VUS then NICE clinical guideline CG164 1.5.9 advises that you can request a review in the future to see whether your VUS has been classified as a BRCA1/2 gene mutation.

A positive test result

If you have tested positive for a BRCA1/2 mutation you will also have a higher risk of developing some other cancers. This risk is shown in the table below.

Find out how your BRCA1/2 status could affect your treatment

These are NHS England guidelines (also followed in Wales). You can download a PDF of this guide containing NHS Scotland guidelines here. If you have any questions please contact Ross@ovarian.org.uk.