Mentor Name: Suzanne MacFarland

Li-Fraumeni Syndrome is a hereditary cancer predisposition syndrome caused by variants in TP53, predisposing to many cancer types, especially early onset sarcomas, brain tumors, breast cancers, and leukemia. The risk of cancer lifelong is 80-90%, with up to 20% risk in childhood, and patients are also at significantly increased risk of second malignancy. Individuals with LFS undergo cancer screening with an intensive screening protocol including MRI, ultrasound, and physical exam, which has been shown to increase survival through earlier cancer detection. Although multiple publications have detailed the efficacy of screening and the rate at which whole body MRI specifically is able to detect malignancy, there has been no comprehensive study of the sensitivity and specificity of this screening protocol in detecting malignancy. Christine will work this summer on a project elucidating the screening efficacy in Li-Fraumeni Syndrome, taking advantage of data shared between CHOP and Sick Kids in Toronto evaluating the detailed screening data from a cohort of over 300 adult and pediatric patients. As the data collected for this cohort span 2019-2024, we will also have the unique ability to evaluate screening efficacy over the course of the COVID19 pandemic, as compared to the year immediately preceding and the year following. There are data that in other cancer screening programs, partial screening is more effective than no screening for survival. Christine will be responsible for evaluating these data together with biostatistician support. There will also be the opportunity for individuals in the CHOP cohort to evaluate for partial screening to include telehealth evaluation. We will specifically evaluate for diagnosis of premalignant and malignant conditions, stage of diagnosis, and survival in this large cohort.