Hereditary Breast and Ovarian Cancer Test

Why screen patients for Hereditary Breast and Ovarian Cancer (HBOC)?

Approximately 5-10% of breast cancers are due to inherited genetic variants and at least 20%of ovarian cancers are also thought to be hereditary. Genomic testing of BRCA1, BRCA2 and other cancer susceptibility genes can be used to identify patients and relatives with an increased lifetime risk of these and other cancers due to inherited pathogenic variants.

Individuals with BRCA1/2 pathogenic variations face significantly elevated risks for breast cancer (up to 72% for BRCA1 and slightly lower for BRCA2 by age 80) and ovarian cancer (up to 44% for BRCA1). Other cancers like prostate, pancreatic, and melanoma are also associated but to a lesser extent.

Genetic testing could be considered when there is:

• A strong family history of breast or ovarian cancer, especially at younger ages
• Multiple family members affected or cases of bilateral breast cancer or both breast and ovarian cancer in a single individual
• Early onset breast cancer
• Male breast cancer
• Ashkenazi Jewish ancestry where BRCA pathogenic variants are more prevalent.

When is testing useful?

Testing for harmful changes in specific genes that convey an increased risk of developing breast and ovarian cancers can help in the following ways:

• Provide specific information on prognosis and lifetime risk of cancer
• Direct the use of specific treatments
• Direct more frequent screening and consideration of prophylactic risk-reducing surgery, for example mastectomy, and medications
• Guide testing of at-risk family members
• Assist couples with reproductive decision making
• Provide an explanation for personal or family history of cancer

Our panels

Genomic Diagnostics offers multiple gene tests and panels for hereditary breast and ovarian cancer.

Genetic counselling is required by our national accreditation body for all tests as the results can have important medical and psychological implications for both you and your family. This counselling can be performed by a qualified genetic counsellor or a medical specialist.

Genomic Diagnostics offer two pathways by which patients may be tested for hereditary breast and ovarian cancer variants - through either a specialist request or through a general practitioner request.

‍A specialist can request any of our hereditary breast and ovarian cancer tests.

Our BRAoVO^TM 13 gene panel tests for genetic variants in a number of high and moderate risk genes that have been demonstrated to increased the risk of breast and/or ovarian cancer. The BRAoVO^TM Plus panel looks at 18 genes, adding to our BRAoVO^TM panel the MMR genes and EPCAM from the Lynch syndrome panel. This panel is 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.

Testing of the BRCA1 and BRCA2 genes can be used to determine eligibility for olaparib therapy in some patients with ovarian, breast or prostate cancer, and single gene testing is important for family members where there is a known familial variant.

‍A general practitioner may only request our BRAoVO^TM Plus testing and counselling package. Medicare does not cover any requests signed by a general practitioner and they are also unable to perform the genetic counselling which must accompany all tests. Through the provision of a package, we enable patients to undergo testing and provide dedicated sessions with a qualified genetic counsellor both before and after genetic testing. They will provide detailed information to the patients on what testing means, the potential implications for the patient and their family members, and what their results mean.