Characterization of sarcoma topography in Li-Fraumeni syndrome.

ABSTRACT:

Introduction

Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome primarily caused by germline TP53 pathogenic/likely pathogenic (P/LP) variants. Soft tissue and bone sarcomas are among the most frequently occurring of the many LFS-associated cancer types. Cancer screening recommendations for LFS are centered around annual whole-body MRI (wbMRI), the interpretation of which can be challenging. This study aims to characterize sarcoma topography in LFS.

Methods

Study subjects included individuals from clinically and genetically ascertained cohorts of germline TP53 variant-carriers, namely the National Cancer Institute's LFS longitudinal cohort study (NCI-LFS), the NCI Genetic Epidemiology of Osteosarcoma (NCI-GEO) study, and the germline T

SUBMITTER: Brockman KJ 

PROVIDER: S-EPMC11578819 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature