Clinical Features of Li-Fraumeni Syndrome in Korea.

ABSTRACT:

Purpose

Li-Fraumeni syndrome (LFS) is a hereditary disorder caused by germline mutation in TP53. Owing to the rarity of LFS, data on its clinical features are limited. This study aimed to evaluate the clinical characteristics and prognosis of Korean patients with LFS.

Materials and methods

Patients who underwent genetic counseling and confirmed with germline TP53 mutation in the National Cancer Center in Korea between 2011 and 2022 were retrospectively reviewed. Data on family history with pedigree, types of mutation, clinical features, and prognosis were collected.

Results

Fourteen patients with LFS were included in this study. The median age at diagnosis of the first tumor was 32 years. Missense and nonsense mutations were observed in 13 and one patients, respective

SUBMITTER: Song R 

PROVIDER: S-EPMC10789946 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature