Garvan Breakthrough magazine - Feb 2018

where whole-body MRI detected early and symptom-free primary cancers in 10 per cent of participants, who were then offered lifesaving treatment. The significance of this is underscored when compared with the detection rate of the widely recommended breast MRI for carriers of harmful BRCA1 or BRCA2 gene variants, which finds cancer in approximately one in 50 people screened. Now, Ballinger and colleagues aim to assess the effectiveness of whole-body MRI in people with multigene cancer risk for whom, as with Li-Fraumeni syndrome, there is no way to predict where in the body cancer might arise. Such insights would have enormous clinical potential, with whole genome sequencing centre stage in identifying people at high risk of cancer and providing scope to catch tumours at an early, treatable stage. “I think that within the next 10 years anybody diagnosed with cancer under the age of 40 will have the option of whole genome sequencing,” says Ballinger. “It’s becoming more and more obvious that this group is genetically predisposed, so being able to further identify those that are at the highest risk, interrogate them genomically and then offer them surveillance really is a  no-brainer.” Would Ballinger extend this to assessing risk in people who have never had cancer? “In the distant future, it’s theoretically possible. But there would have to be lots more research to verify that the genetic profiles were validated.” For Hugh, hopeful that his experience of cancer is behind him, RiSC represents a chance to help others. “Hopefully

I’m grateful to all the people who were in labs 50, 100 years ago, working to get to where we are today. If it was not for advances in medicine, I would not be here

my contribution will be one tiny step in the bigger story of medical research,” he says. “I’m grateful to all the people who were in labs 50, 100 years ago, working to get to where we are today. If it was not for advances in medicine, I would not be here, Alice would be a widow and Henry would never know his father. This is my way of giving back.” As one of the current generation of researchers contributing to this ongoing quest, Ballinger echoes Hugh’s sense of greater purpose: “At a young age, you often think you’re invincible, and a cancer diagnosis can be quite world-shattering.

Having said that, many young people are resilient and find a strength that they haven’t had before. There are lots of things that can be done, as well. That’s the other side to think about. If we can understand cancer better, we can start to make steps to improve things.”

Mandy Ballinger

Leading the way in clinical genomics and cancer The Genetic Cancer Risk in the Young (RiSC) study is part of Garvan’s Genomic Cancer Medicine Program, an innovative suite of research studies and clinical trials that match therapies, prevention and screening methods with individuals on the basis of their genetic information. In addition to providing enhanced understanding of cancer risk, such information makes it possible to select treatment approaches based on the genetics of the cancer, rather than where it is growing in the body, through a personalised treatment approach.

Find out more about the Genomic Cancer Medicine program at

February 2018 | 9

Made with FlippingBook HTML5