Genetic Testing for Breast and Ovarian cancers (BRCA 1 & 2)

For more information or to book an appointment, please call 0800 085 6616

Individuals or families with a history of breast or ovarian cancer may want to consider BRCA1/2 genetic testing to understand their risk of developing one of these conditions and help decide what risk reducing measures to consider.

Having a breast cancer genetic test is not something that anyone should take lightly and needs careful consideration before proceeding. This is why we offer a four stage process that includes:

  • A questionnaire based on the Tyrer-Cuzick Algorithm – a risk estimation model
  • Genetic counselling - to provide a personal risk assessment and aid in the decision to undergo testing
  • A breast cancer genetic test via a simple blood
  • Follow up with genetic counsellor for results and screening/management recommendations

The type of testing required will depend on the circumstances of the individual and, as a result, we offer three different tests:

Comprehensive BRCA 1/2 genetic testing

Comprehensive BRCA 1/2 genetic testing can be useful in families where there is a significant family history of breast and/or ovarian cancer and genetic testing has not previously been performed. This test examines the whole of both genes for changes using two different methods. Where possible it is preferable to test a living relative who has been affected by breast or ovarian cancer first. When this is not possible an unaffected person can have genetic testing if they wish. Genetic testing usually takes several weeks and can be performed on a blood sample.

Predictive BRCA 1/2 genetic testing

When the mutation is known within a family it is possible to offer predictive testing to relatives. This test looks for the mutation which is the cause of the cancer in the family. Usually if a relative does not have the mutation then their risk is the same as the general population risk. If the relative does have the mutation then unfortunately they will have a high risk of breast and ovarian cancer.

Ashkenazi Jewish BRCA 1/2 genetic testing

In Jewish families there are three common BRCA mutations. Therefore the first step (and often the only test needed) is to look for these three mutations. If this test is normal then, in families with a very strong history of breast and ovarian cancer, it is possible to go onto full BRCA testing if the individual/family wishes.

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For more information or to book an appointment, please call 0800 085 6616.

© Spire Healthcare Group plc (2016)