The mutated BRCA1 and BRCA2 genes are linked to an increased risk of ovarian, breast, prostate and pancreatic cancer. For those with Jewish heritage, one in 40 people will have one of these two faults. Joshua Levi shares his personal story.
Genetic testing saved my mum’s life.
Because my family has a history of being diagnosed with cancer, in 2004 my mother was tested to see if she had a mutated BRCA1 or BRCA2 gene.
At the time, no one really knew about the BRCA gene outside of a select few geneticists.
The tests revealed she has a mutated gene, which meant there was a 60 per cent chance she would develop breast, ovarian or pancreatic cancer. Doctors immediately recommended that she have her ovaries removed and a double mastectomy.
Imagine being told as a healthy person that you should have major surgery. It was an unenviable decision, but she followed the doctors’ advice and had the surgery as a preventative measure.
It was a defining moment of her life, because after the surgery, doctors discovered that her ovaries were pre-cancerous.
Depending on when it is discovered, survival rates for ovarian cancer are not particularly high.
But it’s fair to say that there is a strong possibility that if she hadn’t discovered her genetic mutation she may not be alive today.
At the time, the implication of what was happening didn’t really sink in.
Yes, my mum had dodged a bullet, and, yes, she told me that there was a 50 per cent chance that I had the same gene mutation.
I didn’t think anything of it and just put it to the back of my mind.
While I may have forgotten about the BRCA gene, the world was becoming informed.
The gene mutation made international news headlines when Angelina Jolie had a double mastectomy and her ovaries removed.
The BRCA1/2 gene mutation is found in one in 500 people in the general Australian community.
For a variety of reasons, it is found in one in 40 Australian Jews.
In November 2016 my now-wife Lia convinced me to go and get tested to see if I had the same mutated BRCA gene.
A few months after the blood test Lia and I went to the hospital to see Dr Lesley Andrews, the head of the Hereditary Cancer Clinic at Prince of Wales Hospital.
I expected a bit of a conversation, because I’ve known Dr Andrews for a long time, but she just came straight out and said, “The test results identified the mutation.”
I was in shock. Lia was visibly upset and fighting back tears.
I naively hadn’t considered the reality that I could be a carrier of the mutated gene, and I hadn’t been prepared for the news.
I was just staring at the piece of paper in front of me that said “BRCA2 6174delT – identified”.
What does it mean? Where to from here? Am I going to die? Can I have kids? Will I definitely get cancer?
I had so many questions and I didn’t know where to start.
Dr Andrews immediately reassured me.
“I tell everyone that comes in here that if you follow the program we set out then you are more likely to die from heart disease than cancer as a result of these genes,” she said with a reassuring voice.
My defective gene is the BRCA2 gene.
Men who carry a BRCA2 gene fault are at much higher risk of prostate cancer from as young as 40, and if they develop cancer, it will probably be more aggressive.
And while breast cancer in males is uncommon – occurring in less than one in 100 men in the general population – for those with a BRCA2 gene mutation it occurs in around six per cent of men.
Thankfully for me, the biggest difference between men and women who have a mutated BRCA gene is that they don’t recommend major surgery for men.
While I understood that I might develop cancer at some point in my life, the doctors recommend a wait-and-see approach with regular checks for men, and quick action if cancer is found.
Cancer is a scary word. It automatically makes you think of chemotherapy, crippling side effects – and death.
But I learned that there are dozens of varieties of cancer and, depending on what you have and when it is discovered, it can be very treatable.
In my case, it seemed manageable because I had enough knowledge to know that I need more tests to pick it up early.
As Dr Andrews said, “Knowing your genetic make-up might be scary, but you now know your situation and we have the tools to help you through this.”
Once I understood what I faced, the conversation turned to children.
If we were to choose to use in vitro fertilisation (IVF), the doctors could use preimplantation genetic testing (PGT) to test the embryo to make sure that our baby won’t have the mutated gene.
I have to say, while I understand that there are a variety of reasons for going through the IVF process, it wasn’t something I ever wanted to do myself.
I really didn’t understand it and I didn’t want our baby to be conceived in a petri dish.
I’ve since spent a lot of time researching IVF, and now recognise that it’s the best option for an increasing number of people.
For some it’s because natural conception just isn’t working, and for others, like Lia and I, it’s because we want to stop passing a mutated gene down to our children.
And I learned that if you’re religious and concerned, there’s even kosher IVF through the Sydney Beth Din!
Now Lia and I are slowly working through the IVF process, because we want to give our kids the best opportunity at life.
And with the announcement that members of our community can receive free testing for the specific BRCA gene faults associated with Jewish ancestry, you can give yourself, and your kids, the best chance of living a happy and fulfilling life as well.
Finding out I had this gene mutation, and that I could develop cancer at a much younger age, was very scary.
But being informed and understanding my options means I’m in a much better position than the thousands, if not millions, of other unknowing carriers of mutated BRCA genes around the world.
To see if you are an eligible member of the Jewish community for BRCA testing, go to www.jenescreen.com.au.