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Li-Fraumeni Syndrome

Team hopes to develop new ways to detect and prevent tumours for families living with Li-Fraumeni Syndrome

Malkin_DavidWhat would you do if you were diagnosed with a rare disease in which patients have an almost 100 per cent chance of developing cancer in their lifetime – in any part of the body and at any age -- and the options for treatment were limited? These are just a few of the dilemmas posed by Li-Fraumeni Syndrome (LFS), a rare and primarily inherited disease that Toronto researcher Dr. David Malkin and his TFRI-funded PPG group are working on.

“The challenges faced by these children and families are devastating,” says Dr. Malkin, the project’s principal investigator based at The Hospital for Sick Children in Toronto. “There is currently no way to predict which individual will develop cancer, when that cancer might occur, or what types of cancer will actually develop in an individual. Families are basically just waiting for something to happen.

LFS is caused by inherited mutations in a gene called TP53, one of the most frequently mutated genes in human cancers, and affects around one in 2,000 to 5,000 people.

Dr. Malkin’s project will sequence the DNA of all the study’s participants to create a predictive model for determining both the type of cancer and at what age a patient would be most likely to develop it. All of the molecular testing and genetic studies will be done primarily on children, with some adults also involved.

The team is comprised of researchers from two Canadian cities, Toronto and Halifax. The Toronto team members will also develop a surveillance blood test to detect tumours in LFS patients before a patient has any symptoms, while the Halifax team is using mutated zebra fish to identify drugs that may be able to prevent tumours from developing in patients with LFS.

This PPG is very unique, says Dr. Malkin, and is a great example of a successful interdisciplinary collaboration to improve the lives of families living with LFS.

“TFRI is allowing us to take a major problem and come at it from four or five very different ways under one umbrella,” says Dr. Malkin. “We’ve got human genetics, diagnostic imaging, radiology, zebra fish modeling, and computer science on one project – and that is an incredible breadth of scientific expertise working together to solve this…and that’s so exciting!”

Project Title: Li-Fraumeni Syndrome: Applying Genetic Determinants of Cancer Risk to Cancer Surveillance and Prevention
Project Lead: Dr. David Malkin, SickKids
Investigators: Andrea Doria, Anna Goldenberg, Adam Shlien, Jason Berman (Isaac Walton Killam Health Centre)
Duration: ​2015-2018

Related Patient Stories: 

The Peasgood Family: http://www.tfri.ca/en/OurWork/patient-stories/cancer-predisposition-syndromes/amy-peasgood

The Locke Family: http://www.tfri.ca/en/OurWork/patient-stories/cancer-predisposition-syndromes/luana-locke


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