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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 (two or more close relatives with either ovarian or breast cancer), it is 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 do not know all the mutations in different genes that may increase a woman’s risk of ovarian cancer, so it is 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 would not be available for the rest of your family as this result makes it less likely that there is 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, which your genetics specialist could help assess.

“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 but it is not known if it causes an increased risk of ovarian cancer or not. The majority of VUS results are harmless differences in a person’s genes, but if it has not been seen many times before, then it is included in the test report as being an unknown significance. The proportion of women who are given a VUS result is decreasing as scientists learn more and more about the different alterations 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 is likely to 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?

If you have a VUS, you will not be offered predictive genetic testing for the rest of your family. However, if you have a family history of ovarian and/or breast cancer, close relatives could receive risk reducing advice.

If a VUS is found, your family may feel more uncertain than before. 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. So it’s important that you ask your doctor or genetic counsellor for support and advice about the options available to you.

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The information on this page is reviewed regularly and is in line with accepted national and international guidelines. All of our publications undergo an expert peer review and are reviewed by women with ovarian cancer to ensure that we provide accurate and high-quality information. More information about our information standards can be found here.

Last reviewed: February 2020
Next review: April 2022