Hereditary Breast and Ovarian Cancer – Specialist Process

The BraOVO panel looks at high and moderate high risk genes associated with an increased lifetime risk of breast and ovarian cancers, as well as other cancers such as prostate and pancreatic cancer.

The panel contains 13 genes – ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11 and TP53.

BRCA1 and BRCA2 are the most commonly involved and can also be tested for as a 2-gene panel only.

We now also have a new panel, BraOVO Plus, which looks at all those genes covered in the BraOVO panel, along with 5 additional genes: MLH1, MSH2, MSH6, PMS2 & EPCAM.

These are important for breast cancer patients with a family history that includes ovarian cancer and is also useful for families where there is a mixed cancer picture of breast +/- ovarian +/- colorectal cancer.

Familial cancer gene testing looks at only a single gene, performed when a biological relative has been shown to have this gene.

Genomic testing in breast and ovarian cancer can be clinically useful in two main areas:

Genetic counselling involves discussing benefits, limitations and the possible consequences of the genetic testing to be performed. It can be provided by your referring specialist or a qualified genetic counsellor and must be undertaken before testing.

As a complex, cancer risk test, where the results can have important medical and psychological implications for both the patient and their family, our national accreditation body requires genetic counselling to be performed prior to genetic testing.

Following counselling you are then required to consent to genetic testing. If you do not wish to proceed with the testing, you may stop the process here.

Post-test counselling enables full understanding of what the results mean for you, as well as any implications for family members.

Your results will be specialist, who will discuss them with you along with the next steps. Possible findings include:

Pathogenic variant found – also known as a ‘positive’ result. This means a gene change was identified that is known to increase your cancer risk. It does not mean you will definitely develop cancer if you don’t have a personal history of cancer, but if you have cancer it may influence your medical management. The result should be shared with your relatives who may want to be tested to understand their own cancer risk.

No pathogenic variants found – also known as a ‘negative’ result. This means you do not have a harmful change in any of the genes that were tested. It does not mean you will not get cancer, as there are many other factors that contribute to cancer risk, and it does not rule out changes in genes that were not tested.

Variant of unknown significance (VUS) found – this means a gene change was identified however its impact on hereditary cancer risk is not yet understood. This finding will not change your ongoing medical care.

Testing for multiple genes takes approximately 4 weeks. Testing will not start until your pre-test genetic counselling session has been completed.