Jon's Story

In the face of a strong family history of cancer and BRCA2 gene mutation, Jon and his family have turned what could be a source of fear into a commitment for proactive health.

Growing up, Jon saw his father and uncles face serious health issues. Two of his uncles passed away from prostate cancer, and Jon’s father, who had been diagnosed with bowel cancer, passed away from breast cancer two years ago. Jon understands that the men in his father's generation often kept health concerns to themselves. Although early detection for bowel, prostate and breast cancers was possible, many men avoided doctor visits despite having symptoms.

Reflecting on the loss of his father, Jon feels deeply grateful for the legacy left behind. “Breast cancer in men is rare, which is why our family qualified for subsidised, genetic testing. It might sound unusual, but in a way, my dad’s diagnosis led us to this crucial step. If he hadn’t had breast cancer, we might not have considered genetic testing, and that could have drastically altered our family’s future. The cycle of cancer could have continued.”

A cascade of testing

Jon, along with his brother and sister, decided to get genetic testing right away. He remembers being particularly worried about his sister.

“After speaking with the geneticist, we realised the potential significant impact for a woman. My brother and I hoped that if anyone had to get it, it should be us, not our sister. Unfortunately, the results showed that all three of us carry the BRCA2 gene mutation.”

Jon and his siblings quickly shared their results with their extended family. “We contacted our cousins in Manchester to explain the implications of our results. Most of my cousins are female, and four out of five who tested also inherited the BRCA2 gene.” Jon explained. He added that his one male cousin who tested also inherited the BRCA2 gene.

Taking proactive actions as a BRCA2 family

While the BRCA2 gene mutation flows through Jon’s family, so does their instinct for proactive health management. He and his siblings, along with their cousins, took immediate steps to manage their cancer risks. They committed to regular screenings and blood tests, and some planned risk-reduction surgeries like mastectomies and oophorectomies (removal of ovaries).

“I was amazed by the courage of women in my family. They not only jumped on the opportunity to get tested but also took serious steps to reduce their cancer risk. My sister and one of my cousins chose to have a full mastectomy and their ovaries removed. One cousin underwent a preventative bilateral mastectomy. Others have similar plans for after having children. They took it very seriously and I truly admire their strength.”

However, Jon later received heartbreaking news about a cousin who chose not to undergo testing and was diagnosed with advanced breast cancer. “She’s in her mid-40s and has learned that her cancer is progressing. It pains me that she chose not to take action when testing and early intervention could have made a difference.”

The weight of fatherhood

The impact of having a BRCA2 gene mutation doesn’t stop with Jon. As a father, Jon worries about what passing this gene mutation to his children might mean.

“I worry about what this gene could mean for my daughter. Seeing the decisions my sister and cousins faced and the surgeries they underwent, I’m concerned about the challenges my daughter might face if she has the mutation. The what-ifs around her future relationship, motherhood, fertility, decisions about surgeries, and even insurance options worry me.”

Despite these concerns, Jon is committed to preparing his children for the future. “It’s important for my children to understand the implications. I don’t want to sugarcoat this and tuck it in my back pocket until they are 30. I think it’s responsible and fair for them to have this understanding once they become adults.”

Jon and his wife decided to schedule a genetic test for their daughter when she turned 18. As the test date approached, anxiety filled the house. For Jon, educating himself was the best way to provide security for his and his family’s future.

“The more I know, the more I talk to others, and the more open the discussions become. This leads to a brighter outlook on life and helps me manage our risk of cancer. This is why Inherited Cancers Australia resonates with me – through education, advocacy, and a shared community, people can become more aware of their cancer risk and explore proactive options to manage it.”

Jon’s daughter’s genetic test came back negative. “It was such a relief. We consider ourselves very lucky. Starting this cycle of prevention is important to me and my family. When my son turns 18, I’ll encourage him to get tested too.”

Prevention over cure

Jon is a strong believer in cancer prevention. “While we hope for a cancer cure, it’s essential to balance that hope with a focus on prevention.”

Having a BRCA2 gene mutation means a greater risk of developing breast and prostate cancer compared to the general population. Breast cancer in men is rare, but men are often diagnosed at a late stage, which could lead to a higher mortality rate. And both breast cancer and prostate cancer can be detected early through regular screening. Understanding this implication of his hereditary cancer risk, Jon is an advocate for cancer risk management.

“Prevention is incredibly important to me. The results from my tests have motivated me to live a healthier life – regular exercise and a proper diet. Having knowledge about my genetic mutation allows me to take action instead of waiting for something to happen. We have the chance to shape our family’s future.”

The importance of male health discussions

Despite his proactive approach, Jon believes there is still a gap in how men’s cancer risks are addressed.