Abstract
To assess the upper gastrointestinal (UGI) cancer risk and surveillance outcomes in Li-Fraumeni syndrome (LFS). Analysis of the International Agency for Research on Cancer database and a single-center adult LFS cohort. UGI cancer was present in 7.2% of families and 3.9% of individuals with a pathogenic/likely pathogenic TP53 mutation in International Agency for Research on Cancer; 29% occurred before age 30. Our institutional cohort had 35 individuals (31% of the LFS cohort) with 48 cumulative upper endoscopies; 3 (8.5%) individuals had concerning UGI findings. UGI cancer is observed in LFS. Upper endoscopy should be part of a comprehensive LFS surveillance program.
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