Impact of a negative test result

What you need to know if your results show 'mutation not present' (sometimes called a negative test result).

There are three possible results for testing for a BRCA1 or BRCA2 gene mutation.

If your results show 'mutation not present' it means that testing has not identified any gene mutations

Some people can feel relief and reassurance if they are not found to have a genetic cause for their cancer.

If you have this result and don't have a family history of ovarian or breast cancer (two or more close relatives with either ovarian or breast cancer), it's most likely that your ovarian cancer was a one-off in your family ('sporadic'). It means your risk, and the risk of your children, of developing breast cancer and other cancers associated with the BRCA1 and BRCA2 genes is probably similar to the general population.

If you have this result but have a strong family history of ovarian and/or breast cancer, the result can be less helpful. Scientists still don't know all the mutations in different genes that may increase a woman's risk of ovarian cancer. So it's possible that you have a mutation in a different gene not found by this test. This means there is still a level of uncertainty even after genetic testing.

Can my family members still receive a genetic test?

Predictive genetic testing won't be available for the rest of your family if you've had a negative test result. That's because this result makes it less likely that there's a significantly increased risk of developing cancer in your family. If you have a family history of ovarian and/or breast cancer, close relatives may still be able to access additional screening or discuss risk reduction. Your genetics specialist could help assess this.

My test came back negative, which was good but also left a lot of questions unanswered for me and my relatives. I still have a strong family history, which leaves us wondering why and what the unknown possible risks are.


Last reviewed: March 2020

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