What is Li Fraumeni Syndrome (LFS)?

LFS is a rare highly penetrant hereditary familial disorder that affects around one in 2,000 to 5,000 people.

It is associated with germline mutations in the TP53 gene, that increases a person's risk for a wide spectrum of early-onset cancers.

In addition to soft tissue sarcomas and premenopausal breast cancers, carcinomas of the lung, skin, pancreas or adrenal cortex, leukemia, and various brain tumors were also observed.

In 2011, Dr. Malkin and colleagues at the Hospital for Sick Children developed the “Toronto protocol”, a comprehensive surveillance protocol for early cancer detection in carriers with germline mutations in TP53

“Today, people living with LFS have no idea if and when something bad might happen to them or someone else in their family,” Dr. Malkin said.

Our research program aims to seek a radical alternative to the endless cycles of cancer therapy that LFS patients undergo: the pharmacological prevention of initial cancer onset. 

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