Facebook Facebook Share

What is the impact of ‘mutation not present’?

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 do not have a family history of ovarian or breast cancer, it is most likely that your ovarian cancer was ‘sporadic’ or a one-off in your family. 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 the same as the general population.

If you have this result, but have a strong family history of ovarian or breast cancer, the result can be confusing and less informative. Given that scientists still do not know all the mutations in different genes that may increase a woman’s risk of ovarian cancer, it is possible that you have a mutation in a different gene not detected 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?

Sarah

Sarah's story

"The discovery left me with a difficult decision to make. I was 32 years old, and on my own with two young girls. I was told the risk of getting breast cancer was higher than that of getting ovarian cancer because I was so young."

Although the result makes it less likely that a very strong predisposition to cancer runs in your family, close relatives could receive risk reducing advice, based on the family history.

“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.” Sue

What is the impact of ‘variant of unknown significance’ (VUS)?

If you have been told the result showed a genetic variant of unknown significance (or VUS), this means that the test has found a gene mutation or alteration in the BRCA1 or BRCA2 gene where it is not known if it causes an increased risk of ovarian cancer or not. The number of women who are given a VUS result is decreasing as scientists learn more and more about the different mutations that increase the risk of ovarian cancer. It may also mean that your VUS is reclassified over time. As more is discovered about genes, there may be further information about the VUS in the future and you may like to contact your Clinical Genetics Service to discuss this in a few years’ time.

Can my family members still receive a genetic test?

Based on a VUS, predictive genetic testing would not be available for the rest of the family. However, close relatives could receive risk reducing advice, based on the family history.

If a VUS is identified, it may create a higher level of uncertainty for a family. You may find the uncertainty very difficult to understand or deal with emotionally, as it is less clear whether you and other family members have an increased risk. It is, therefore, important that you ask your doctor or genetic counsellor for support and advice about the options available to you.

Find out more 

The information on this page is approved by the Information Standard scheme to ensure that it provides accurate and high-quality information.

Information standard logo

Last reviewed: July 2016
Next review: June 2019