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

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

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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.

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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. 

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“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.

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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.