Luana Locke was pregnant with her first child when she found out she had breast cancer – a diagnosis that eventually led her family to discover they carried a mutated gene responsible for a rare cancer predisposition syndrome.
Li-Fraumeni Syndrome (LFS) is caused by inherited mutations in a gene called TP53, one of the most frequently mutated genes in human cancers. Around one in 2,000 to 5,000 people have LFS, and carriers of the gene have a 50 per cent chance of passing it on to their children.
“Suddenly it started all making sense. We started understanding why there were so many occurrences of cancer – including early onset cancer - in our family,” explains Locke, now 44 and living in Toronto with her husband and their two children.
People living with LFS have a nearly 100 per cent chance of developing cancer in their lifetime – in any part of the body and at any age – and treatment options are currently limited.
LFS can be ruthless: Locke has lost her mother, aunt, sister, brother, nephew and cousin to the disease. Her children Juliet, 9, and Lucas, 18, also have LFS, but are so far healthy and cancer-free.
“You look at our family pictures, and these people were there. We were a big family,” she says. “Then you just start to erase all the images, and who’s left? My dad and me, and my kids.”
Yet Locke remains optimistic about her family’s future. She and her children regularly undergo full body screening, including blood tests, MRIs, and an ultrasound of the pelvis and abdomen. The elaborate monitoring protocol, proven to significantly increase patient survival rates, is led by SickKids Hospital oncologist and senior scientist Dr. David Malkin.
Dr. Malkin’s TFRI-funded team is also developing a surveillance blood test to detect tumours in people with LFS before they show any symptoms, as well as to identify drugs that may be able to prevent tumours from developing in the first place. A model predicting when and where patients would be likely to develop cancer is also in the works.
Research like this is “fantastic”, says Locke, and keeps her positive.
“To know there are people who continue asking the important questions and who are committed to conducting the type of research that might one day lead to more effective ways of detecting cancer at the earliest possible stages, find a cure or, best of all, discover the means to prevent a cancer from occurring at all, gives me incredible hope,” she says. “I wish them all success and hope for promising results.”