What is the BRCA gene mutation? An expert explains

WORDS Sonia Blair PHOTOGRAPHY Pinterest PUBLISHED Tue, 4 Oct 2022 - 1:30 pm

As we welcome October, we are also welcoming Breast Cancer Awareness Month again for the year, a month where we are implored to reflect on and understand further the impact of this insidious disease that impacts many Australians across their lives, and is frequently an inherited condition. October is a time to educate ourselves and others on the disease, especially surrounding the BRCA gene mutation common to many cases. Here, with the help of Breast Cancer Trials, we look at the specifics of hereditary breast cancer, how it impacts individuals and where you can learn more.

How many breast cancer cases are hereditary?

Five to 10 per cent of Australian breast cancer cases are believed to be hereditary, meaning the gene mutation has been passed on by a parent. This typically means these cases are diagnosed at a younger age, and may be a more aggressive form of the disease. This is why it is so important for everyone to understand the risks associated with breast cancer and why early detection and treatment is paramount.

What are the most common gene mutations that cause hereditary breast cancer?

Of the genetically inherited genes, the most common mutations are the BRCA1 and the BRCA2. What many may not know is everyone has these two genes and in normal cells, they assist with making proteins to repair damaged DNA. However, once mutated, they result in an accumulation of DNA which can lead to abnormal cell grown and cancer. Roughly one in 400 women are at the highest risk of breast cancer as they carry these genes. While all women are at risk of developing breast cancer in their lifetime, there are a range of factors that can influence this including family history and genetic susceptibility.

Are genetic breast cancers more aggressive?

Often diagnosed at a younger age, BRCA1-related breast cancer is more likely to be triple negative than non-genetic breast cancer. What is important to note about this is these factors are often associated with a higher risk of recurrence, along with the stage of the cancer.

Personal patient factors, the type of cancer detected, and the stage have an impact on occurrence and survival than the genetics themselves.

How do I know if I need genetic testing?

Women who are diagnosed with breast cancer under the age of 35 will have genetic testing offered to them. This also extends to those with a family history or who are diagnosed with certain types of breast cancer, including triple negative breast cancer.

Now, what is important to note is if the BRCA1 or BRCA2 mutations are identified, this may be associated with a family history of breast, ovarian, prostate or other types of cancer, and may come from either the maternal or paternal family.

Where can I have genetic testing completed?

If you are seeking genetic testing, it is worth noting it is only offered through a Familial Cancer Clinic or qualified professional, including oncologists.

If you are concerned about your family history of breast cancer or have a close relative who carries the BRCA mutation, you can speak with your health professional about a referral for a Familial Cancer Clinic.

As part of Breast Cancer Awareness Month, AUNZ’s largest oncology research group, Breast Cancer Trials, has announced an expert Q&A panel, providing attendees with the opportunity to learn critical information about the disease and how it impacts women, their families and the greater community. Here at RUSSH, we know all too well how information on such topics can often feel overwhelming at first, and the Q&A panel do so well is break down much of the above information in simple terms, a great comfort for those wanting to learn more.

The panel consists of a selection of qualified experts on the topic. This includes Professors Kelly-Anne Phillips and Geoff Lindeman, Dr Milita Zaleed – specialist in cancer genetics and Chair of the NSW/ACT Familial cancer clinics community of practice – and Karen Alexander whose family, including herself, all have the BRCA gene mutation.