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Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriers

18 Jan 2025

Abstract excerpt

Background: gene. Although rare worldwide, LFS is prevalent in Southern Brazil due to the founder pathogenic variant R337H. Here, we assessed tumor patterns and temporal trends, cancer risk, and sex differences of adult R337H carriers and carriers of other LFS-associated variants. Methods: We retrospectively analyzed 708 adults, combining data from two sources: the Brazilian Li-Fraumeni Syndrome Study cohort and...

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PMID: 39895904
DOI: 10.1016/j.lana.2024.100982

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