Two women sit reading Target Ovarian Cancer's guide to genetics and hereditary ovarian cancer
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Posted by Target Ovarian Cancer on Thursday 18 January 2018

Widely reported in the news today is a study looking at whether we should test women in the general population over 30 for a BRCA1 or BRCA2 mutation, regardless of family history. The study concludes that this would help prevent a large number of cases of ovarian and breast cancer.

About 10-15 per cent of women with ovarian cancer have a mutation (sometimes referred to as a fault) in their BRCA1 or BRCA2 gene. At the moment most women with ovarian cancer can access genetic testing and if they are found to have a mutation in the BRCA1 or BRCA2 gene, this is then extended to their immediate family so they can find out if they are at risk of developing breast or ovarian cancer.

It is important to remember that a mutation in the BRCA1 or BRCA2 gene can pass down both the mother’s and father’s side of the family so it is important that men with a family history are also offered testing.

Throughout this process it is vital that individuals are given support in the form of genetic counselling to make an informed decision on whether or not to be tested – then to process the results if they are found to have a mutation in the BRCA1 or BRCA2 gene. Test results can have significant implications both for an individual and their wider family. It can mean difficult decisions around preventative surgery for women, and everyone found to carry the genetic mutation may be worried that it has been passed on to their children. Target Ovarian Cancer has funded research which looked at how this support can be delivered in a timely manner while ensuring we recognise the emotional aspect of genetic testing.

The findings published today looked at extending testing to all women in the general population which would identify those at risk faster than the current process of first testing women with ovarian cancer and then their family.

Rebecca Rennison, Director of Public Affairs and Services at Target Ovarian Cancer, said: “Genetic testing in the general population does have the potential to identify genetic mutations earlier. At the moment there is no established screening programme for ovarian cancer, so in order to reduce their risk of developing the disease, women found to have a mutation in their BRCA1 or BRCA2 gene would then have to decide whether to undergo preventative surgery.

“Having genetic testing and the potential results can also have implications on the whole family, which is why Target Ovarian Cancer is clear that genetic counselling should always be offered to anyone undergoing a genetic test. Our research has developed a protocol for this, which we hope will be widely adopted.”

Genetic testing for mutations in the BRCA1 and BRCA2 genes is currently available for all women diagnosed with non-mucinous ovarian cancer in the UK, irrespective of family history. That’s 90 per cent of the ovarian cancers diagnosed here each year. If you would like more support or information, visit our pages on genetics and hereditary ovarian cancer, or contact our nurse-led Support Line.

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