Hereditary cancer is more common than you might think

Cancer touches nearly every Australian, with one in two people facing a diagnosis by age 85.

The ripple effects reach far beyond the individual, impacting families, friends and entire communities.

Wendy Berril has felt these impacts in a big way from a young age.

Her father, a non-smoker, died of lung cancer when she was just two years old. A few years later, her brother passed away from leukaemia at the age of 10.

Other relatives on her dad’s side died unexpectedly in their thirties from various cancers – breast, brain, bone. It was clear that something wasn’t right and her family was left wondering: “What could be going on here?”

The answer came when one of her uncles opted for genetic testing that uncovered a condition known as Li-Fraumeni Syndrome. This hereditary cancer syndrome is caused by changes in the TP53 gene, a tumour suppressor gene that normally inhibits uncontrolled cell growth.

When this gene doesn’t function properly, as in Wendy’s case, it results in a high risk of various childhood and adult-onset cancers.

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Children of parents with Li-Fraumeni Syndrome have a one in two chance of inheriting the gene. Wendy’s mother, who worked in pathology, recognised that this condition had likely affected both her late husband and son.

Now, she faced the daunting prospect that Wendy might also be affected.

Cancers caused by Li-Fraumeni Syndrome can strike at any age but, thankfully, Wendy remained unaffected throughout her childhood. Her mother decided to wait until she was old enough to make her own decisions about genetic testing.

Today, advancements in genetic technology are pushing many parents to confront similar decisions for their children at younger ages, across a range of different hereditary cancer syndromes.

The Australia-wide ZERO Childhood Cancer program now offers genetic testing for all children diagnosed with cancer as part of their precision medicine program. These studies have shown that heritable cancer syndromes, like Li-Fraumeni syndrome, are much more common than previously predicted.

Around two in ten children diagnosed with cancer are now thought to carry a heritable cancer gene.

For Wendy, deciding whether to learn about her potential genetic cancer risk was not a quick choice:

If everything is just dumped on you in one meeting, you’re overwhelmed. You need time to process, think about questions, do your own bit of research.

And there is a lot to consider. To better understand how families feel about genetic testing in children with cancer, our team conducted a systematic review focusing on the perspectives of young patients and their parents.

Our review of 24 studies found that most families agree to genetic testing, hoping it will benefit themselves, their child and others in the future.

Those who decline often cite concerns about data privacy, insurance implications and coping with the knowledge of an inherited disease risk. Many parents fear the guilt of discovering they passed on a cancer-causing gene to their child.

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Reflecting Wendy’s experience, many families also felt initially overwhelmed by the decision so soon after the child’s cancer diagnosis, and needed time to process this news before making a choice.

When families proceeded with genetic testing, some were disappointed when no genetic cause was found, while others who did learn of a heritable cancer gene faced feelings of fear, guilt and concern for the rest of their family.

But it’s not all bad news. Many families in our review felt relieved by their genetic results – whether it was the reassurance that they hadn’t passed on a cancer-causing gene or finally having an explanation for their child’s cancer.

Genetic testing also allowed families to take proactive steps in managing their health, benefiting not just the child but the entire family.

Steps like testing other family members who may also be at risk, engaging in routine cancer screening tests and considering reproductive options to prevent passing on cancer risk genes to future generations.

Routine cancer screening for those with inherited cancer syndromes can ideally identify any new cancers at an earlier and more treatable stage.

This involves regular procedures like whole body-MRI, brain MRI, blood tests and ultrasounds. This proactive approach helps families regain a sense of control in an otherwise uncertain situation.

Early evidence suggests that the clinical benefits of routine cancer screening for adults with Li-Fraumeni Syndrome and other similar conditions outweigh the potential burdens.

In children, where the psychological and social burdens may be more pronounced, more research is needed.

For Wendy, these routine tests provided comfort and peace of mind.

Catching things early is always better than finding out later. Even just getting that reassurance of, okay, cool, I’m safe for another year now… I don't see any harm in that. I make it a priority and I make sure I get it done.

Wendy also took advantage of another proactive measure: pre-implantation genetic diagnosis.

This screening test, used during IVF, can check to see if embryos have a particular gene. For Wendy, this allowed her to ensure that her children would not inherit the condition that had impacted her family so deeply.

Don’t get me wrong, life will deal you whatever it deals you, but if you have a higher chance of getting cancer, and you have that opportunity to screen it out and you have access to all those medical facilities and opportunities, why wouldn’t you? We are very thankful that we have screened the gene out of our boys, so we don’t have to have that weight on us.

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Through our research and talking to people like Wendy, we have seen the diverse and deeply personal journeys families face when considering genetic testing for hereditary cancer syndromes.

This complexity demands that healthcare professionals move beyond a one-size-fits-all approach, embracing nuance and flexibility to meet each family’s unique needs.

While Wendy describes her recent terminal lung cancer diagnosis as a devastating blow for her and her family, her resilience and generosity in the face of such adversity is inspirational.

My husband and I both have good days and bad days… trying to think about the future when I'm potentially not here… going forward with one income, with one parent, two kids. But we're trying to still live in the moment, not plan the future without me.

Wendy hopes that her story will serve as a powerful call-to-action for families to recognise and understand their genetic risks, communicate findings, take proactive measures to protect their health, as well as consider reproductive options to safeguard future generations.