Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome.

ABSTRACT:

Background

Little is known of the mutation and tumor spectrum of Korean patients with Li-Fraumeni syndrome (LFS). Owing to the rarity of LFS, few cases have been reported in Korea thus far. This study aimed to retrospectively review the mutations and clinical characteristics of Korean patients with LFS.

Methods

TP53 mutation was screened in 89 unrelated individuals at the Samsung Medical Center in Korea, from 2004 to 2015. Six additional mutation carriers were obtained from the literature.

Results

We identified nine different mutations in 14 Korean patients (male to female ratio=0.3:1). Two such frameshift mutations (p.Pro98Leufs*25, p.Pro27Leufs*17) were novel. The recurrent mutations were located at codons 31 (n=2; p.Val31Ile), 175 (n=3; p.Arg175His), and 273 (n=4;

SUBMITTER: Park KJ 

PROVIDER: S-EPMC4940490 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature