Li Fraumeni syndrome in the UK: clinical characteristics and outcomes of TP53 carriers.

ABSTRACT:

Background

Li Fraumeni syndrome (LFS), a rare genetic condition, poses a significant health impact due to the ∼75%-90% lifetime risk of developing cancer in affected individuals. Due to the rarity of this disease, little is known about the outcomes, clinical characteristics, and treatments of cancer for patients with LFS.

Patients and methods

We present a retrospective dataset of 57 patients from 41 families diagnosed with LFS between 1996 and 2021, with or without a concurrent cancer diagnosis, who were managed at a single cancer institution in the UK. We present the cancer types that were observed in this group, the age at cancer diagnosis, and treatment modalities for those affected with cancer, either before or after having a TP53 test to establish their LFS diagnosis.

SUBMITTER: Finn E 

PROVIDER: S-EPMC12529301 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature