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How genetics can increase your risk of breast and ovarian cancer

For many young women in their 20s, it’s a time of parties, overseas travel and climbing the first steps of the career ladder. If you’re young, you probably think you don’t need to worry about potentially deadly diseases like cancer until much later in life.

But for Deakin social media coordinator Melanie Maizels, 27, and her younger sister Karni, 24, their 20s have been a rollercoaster ride of health concerns and difficult decisions.

Their mother Ilana was diagnosed with ovarian cancer at the end of 2014, just before her 50th birthday. ‘She felt like something wasn’t quite right, and headed straight to the GP. This meant that the cancer was caught early, saving her life,’ Melanie says.

Ilana underwent chemotherapy, and is now in good health. But given many women in their family, including Ilana’s late sister, had suffered breast and ovarian cancer, Ilana’s oncologist recommended she be tested for the BRCA1 gene mutation.

The BRCA1 and BRCA2 genes have been linked to hereditary breast and ovarian cancer, and greatly increase the chance of getting cancer. Knowledge of these genetic mutations has increased in recent years thanks to celebrities such as Hollywood star Angelina Jolie, who in 2013 revealed she had a mutation in her BRCA1 gene. After losing her mother, grandmother and an aunt to cancer, Jolie decided to undergo a preventative double mastectomy, and later had her ovaries and fallopian tubes removed.

When cancer strikes in your mid-20s

Ilana tested positive to the BRCA1 gene mutation, ‘which meant my sister Karni and I had a 50% chance of carrying the gene mutation as well,’ Melanie says. ‘A few months later we were tested and we were told that we were also carriers of the gene.’

Melanie says she and her sister laughed awkwardly when they received the news, while their mother had tears streaming down her face. In a way, the sisters were relieved that they both had the gene, rather than one of them going through it alone.

Unfortunately worse was to come. Earlier this year, Karni was diagnosed with early stage breast cancer at 24; just days after her annual MRI scan.

‘While this was devastating, thanks to regular health checks it was possible to treat the cancer while it was in its early stages,’ Melanie says.

All three women have now undergone double mastectomies to protect their future health.

What exactly is a genetic mutation?

Professor Leigh Ackland, director of Deakin’s Centre for Cellular and Molecular Biology, explains the science behind genetic mutations.

‘A genetic mutation is really a change in the information that we have stored in the cells that enables us to make all the proteins that we need to run our bodies,’ she says. ‘So the nucleus of the cell contains instructions in the form of DNA sequences.’

Prof. Ackland says a small proportion of women who are prone to develop breast or ovarian cancer are born with mutations in their BRCA1 or BRCA2 genes. Such mutations can be passed from one generation to the next.

How much does it increase your risk of cancer?

Unfortunately, says Prof. Ackland, having certain BRCA gene mutations is a very good indicator that you have a greater risk of getting cancer.

‘It is possible to get a test for BRCA gene mutations and if you do have mutations, then the chances of getting breast cancer could turn out to be high, to the extent that a mastectomy would even be considered.’

According to preventative health organisation Pink Hope, carrying a BRCA gene mutation can give a woman a 72% risk of developing breast cancer or 44% risk of developing ovarian cancer.

'It is possible to get a test for BRCA gene mutations and if you do have mutations, then the chances of getting breast cancer could turn out to be high'

Professor Leigh Ackland,
Deakin University

However, Prof. Ackland says while certain genetic mutations can cause disease, many other genetic mutations will not have any consequence for a person’s health. ‘If a mutation is in a part of the DNA that doesn’t code for or regulate a particular gene that produces an important protein, well that may not matter – it may not have any effect at all.’

For those who have cancers that run in their family, Prof. Ackland recommends making an appointment to see a medical practitioner who may refer them to a genetic counsellor, to decide the best approach.

‘There’s a lot of information about this and a lot can be done to help these people,’ she says.

Tough decisions for a healthy future

As for Melanie Maizels, who underwent her double mastectomy this month, there are more decisions to be made. She says that because she carries the BRCA1 mutation, she and her sister’s chances of getting ovarian cancer will severely increase from the age of 35.

‘It is strongly recommended that as soon as we are done having children, we undergo a hysterectomy. Luckily for me, I have an incredible boyfriend who said he would support me with whatever decision I choose to make.

‘My sister and I will not be able to breastfeed when we do decide to have children but that was a sacrifice we were willing to make in order to look after our long term health.’

To understand more about your risk of breast and ovarian cancer, visit Pink Hope.

Interested in studying medical genomics as a major? Consider studying biomedical science at Deakin. 

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Professor Leigh Ackland
Professor Leigh Ackland

Director, Centre for Cellular and Molecular Biology, Deakin University

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