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

ABSTRACT:

Background

Li-Fraumeni Syndrome (LFS) is a predisposition associated with early onset malignant tumors caused by germline pathogenic variants in the TP53 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 the NCI TP53 database. We assessed the clinical characteristics of 303 adults with R337H and compared them with those associated with 405 carriers of other TP53 variants.

Findings

R337H carriers, compared to adult

SUBMITTER: Galante PAF 

PROVIDER: S-EPMC11787607 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature