Dr. Raymond Kim was one of the leaders of a study, funded by philanthropy, that demonstrated that by analyzing patients’ blood samples they could detect cancer earlier in people with Li-Fraumeni syndrome.SUPPLIED
How philanthropy supports cancer research that leads to breakthroughs in treatment and early diagnosis
Without donor-funded medical research, Luana Locke would probably have not survived through the five different cancers she has been diagnosed with over the past 27 years.
She is sharing her story as part of The Princess Margaret Cancer Foundation’s GivingTuesday campaign.
Ms. Locke has Li-Fraumeni syndrome (LFS), an inherited condition associated with an almost 100 per cent lifetime risk of developing cancer. It is caused by changes in the TP53 gene, which encodes a protein that helps prevent tumour formation.
But thanks to years of research breakthroughs in treatment and early detection, Ms. Locke survived breast cancer detected when she was 25, followed by sarcoma, lung cancer, thyroid cancer and skin cancer.
Now, a newly published study by researchers at Princess Margaret Cancer Centre, The Hospital for Sick Children (SickKids) and the Ontario Institute for Cancer Research (OICR) shows that cancer can be identified in blood samples even before it shows up in body scans for individuals with LFS.
Dr. Trevor Pugh at The Princess Margaret was one of leaders of a study that demonstrated that by analyzing patients’ blood samples they could detect cancer earlier in people with Li-Fraumeni syndrome.SUPPLIED
The research study, funded by philanthropy, was led by Drs. Trevor Pugh and Raymond Kim at The Princess Margaret, and Dr. David Malkin at SickKids.
The researchers demonstrated that by analyzing patients’ blood samples – often called liquid biopsies – they could detect cancer earlier in individuals with LFS.
“We were able to detect multiple different types of DNA changes in blood that were a telltale sign that cancer was developing somewhere in the body months before cancer would show up in imaging,” says Dr. Pugh, senior scientist at The Princess Margaret and director of the OICR Genomics Program.
Testing blood samples for signs of cancer is an attractive screening approach compared to imaging methods, which require specialized machines and biopsies, and are more invasive, he adds.
Cancerous cells and healthy cells release pieces of DNA into the blood. By analyzing these DNA fragments, researchers are developing methods to detect whether a tumour has developed in the body, says Dr. Kim, medical director of Cancer Early Detection and the Bhalwani Familial Cancer Clinic at The Princess Margaret, and lead of the Ontario Hereditary Cancer Research Network at OICR.
“This more robust approach is paramount in early cancer detection where the stakes are high,” he says. “To improve the accuracy of early-stage cancer diagnoses, such genetic tests can be used to complement other clinical screening methods, and they can be performed at a higher frequency.
“The research we do today saves lives tomorrow,” says Dr. Kim. “The surest path to cure cancer is to diagnose it early.”
We were able to detect multiple different types of DNA changes in blood that were a telltale sign that cancer was developing somewhere in the body months before cancer would show up in imaging.
— Dr. Trevor Pugh, Senior Scientist and Director of the OICR Genomics Program, The Princess Margaret Cancer Foundation
No one knows that better than Ms. Locke. Early detection is invaluable for her and her family and has prolonged her life many times already. Following her first cancer diagnosis when she was 25, she discovered that her mother, children and many members of her extended family carried the same TP53 genetic change.
Ms Locke has regular screenings, blood tests, MRIs of her whole body and ultrasounds at The Princess Margaret to detect cancers early.
Dr. Kim has been monitoring Ms. Locke for almost 10 years.
“This is a full circle moment for us,” says Ms. Locke. “From being part of the first Toronto Protocol, a cancer surveillance protocol, to what may now be the next step in early detection and diagnosis for families with LFS, our family has relied on the advancements made at SickKids and The Princess Margaret.”
She notes that while regular scans and checkups are routine when you have LFS, the ability to use a simple blood test to identify when, where and if a cancer is occurring rather than react when one has already developed is life-changing.
The research team will conduct a clinical trial to further test this approach on patients with different types of high-risk cancer predisposition syndromes including LFS, Lynch syndrome, and Hereditary Breast and Ovarian Cancer syndrome.
In the meantime, doctors at The Princess Margaret will continue to use early detection testing to develop personalized treatments for people with a history of cancer or a high risk of hereditary cancers.
“It’s thanks to research – much of it donor-funded – that we are able to make life-changing breakthroughs like early detection and other advances that give cancer patients new hope,” says Dr. Kim.
Information: thepmcf.ca
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