title: 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; p.Arg273His and p.Arg273Cys). The median age at the first tumor onset was 25 yr. Ten patients (71%) developed multiple primary tumors. A diverse spectrum of tumors was observed, including breast (n=6), osteosarcoma (n=4), brain (n=4), leukemia (n=2), stomach (n=2), thyroid (n=2), lung (n=2), skin (n=2), bladder (n=1), nasal cavity cancer (n=1), and adrenocortical carcinoma (n=1).
  
  
  CONCLUSIONS
  There was considerable heterogeneity in the TP53 mutations and tumor spectrum in Korean patients with LFS. Our results suggest shared and different LFS characteristics between Caucasian and Korean patients. This is the first report on the mutation spectrum and clinical characteristics from the largest series of Korean LFS patients.
authors.affiliation: Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, Korea.
authors.forename: Kyoung Jin
authors.initials: KJ
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hospital, Gwanju, Korea.
authors.forename: Hyun Jung
authors.initials: HJ
authors.lastname: Choi
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hospital, Gwanju, Korea.
authors.forename: Soon Pal
authors.initials: SP
authors.lastname: Suh
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Chang Seok
authors.initials: CS
authors.lastname: Ki
authors.affiliation: Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, Korea.|Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. kimjw@skku.edu.
authors.forename: Jong Won
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003062:Codon; D005260:Female; D016368:Frameshift Mutation; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D016864:Li-Fraumeni Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary; D011110:Polymorphism, Genetic; D056910:Republic of Korea; D012189:Retrospective Studies; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D055815:Young Adult
chemical_list: D003062:Codon; D016159:Tumor Suppressor Protein p53
keywords: Germline mutation; Li-Fraumeni syndrome; TP53