I’ve tested positive for a genetic mutation

Receiving a positive test result for a genetic mutation in the BRCA1, BRCA2 or Lynch Syndrome genes can be frightening but there are steps you can take to make it less daunting.

A positive test means that your chance of developing ovarian cancer will be higher than someone who does not have a genetic mutation in these genes.

If you have tested positive for a:

  • BRCA1 mutation you will have a 40-60% chance of going on to develop ovarian cancer
  • BRCA2 mutation you will have a 10-30% chance of going on to develop ovarian cancer
  • Lynch Syndrome mutation you will have a 10% chance of going on to develop ovarian cancer

If you test positive for a BRCA1 or BRCA2 gene mutation you will also have an increased risk of developing breast cancer.

If you have tested positive for a:

  • BRCA1 mutation you will have a 60-90% chance of going on to develop breast cancer
  • BRCA2 mutation you will have a 45-85% chance of going on to develop breast cancer

What do I do next?

Because of your increased risk of developing ovarian cancer you may wish to look at what measures you can take to prevent this happening.

If you have tested positive for a BRCA1/BRCA2 mutation and you are over the age of 40 years your genetic specialist will discuss surgery with you. Removing your ovaries and fallopian tubes will reduce your risk of developing ovarian cancer down to 5%

If you have tested positive for a Lynch Syndrome mutation you can also have surgery to remove your ovaries and fallopian tubes.

There are other factors which are thought to help protect against ovarian cancer but to a lesser extent than surgery. These include:

  • Maintaining a healthy weight
  • Breast feeding
  • Having your first child before 30 years of age
  • Having several pregnancies

You can discuss these measures with your genetic specialist to determine what is the best option for you.

You can download our hereditary ovarian cancer leaflet.