Breast cancer gene testing for Queensland women at Mater Pathology

October is Breast Cancer Awareness Month – a chance to focus on a disease that claims the lives of more than 580 Queensland women each year.

Breast cancer is the most common cancer in women in Australia (apart from non-melanoma skin cancer) and the second most common cancer to cause death in women, after lung cancer.

This time last year, fundraising trough the RACQ International Women’s Day Fun Run for Mater Chicks in Pink allowed Mater Foundation to purchase a $250,000 genetic analyser for Mater Pathology

The analyser allows Mater to launch a high-capacity breast cancer gene (BRCA) testing service, providing women with rapid access to critical and potentially life-saving information about their future breast cancer risk.

Prior to taking receipt of the analyser, BRCA testing had to be performed in Victoria, or even overseas, which meant a significant time between the test request and the return of results.

In some cases, these results could take months, whereas now the analyser is fully commissioned they can be available in 10-20 business days from receipt in the South Brisbane laboratory.

Increased and faster BRCA testing means Mater's breast clinicians can offer more personalised and effective care and tailored treatment plans for women with breast cancer.

Through this testing, doctors can establish if a woman’s breast cancer is caused by pathogenic variants in 1 of 7 core genes – of which the BRCA1 and BRCA2 genes are the most likely to be affected.

Oncologists can modify treatment if a cancer is known to be caused by a gene defect in BRCA1 or BRCA2. They can also recommend the patient’s family members are screened if there is a significant risk that they will have the same variant.

Women with the BRCA1 pathogenic variant have a 60-80% risk of developing breast cancer before they turn 80, while the risk is around 40% for those with the BRCA2 variant.

Patients found to have BRCA pathogenic variants often choose to undergo preventative mastectomies and have their fallopian tubes and ovaries removed, as the variant is also linked to ovarian cancer.

Mater Pathology is proud to be able to extend their existing genetic services to include breast and ovarian genetic screening, with testing also available for a range of other genetic conditions, such as Congenital Adrenal Hyperplasia, Angelman and Prader-Willi syndromes.

Are you a doctor?

More information on this testing can be downloaded from Resources, on Mater Pathology's I am a Doctor page of or phone 07 3163 8500.

Public relations contacts

07 3163 6142