ArticleAnnals of laboratory medicine2016
Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome.
Article in Annals of laboratory medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 21 citations in OpenAlex.
- Comprehensive genomic profiling of Chinese lung cancer characterizes germline-somatic mutation interactions influencing cancer risk.Journal of translational medicine · 2025Article
- Clinical Features of Li-Fraumeni Syndrome in Korea.Cancer research and treatment · 2024Article
- Emerging insights into ethnic-specific TP53 germline variants.Journal of the National Cancer Institute · 2023Review
- Clinical and genomic features of Chinese lung cancer patients with germline mutations.Nature communications · 2022Article
- Melanoma in patients with Li-Fraumeni syndrome (Review).Experimental and therapeutic medicine · 2022Review
- Choroid Plexus Carcinomas With TP53 Germline Mutations: Management and Outcome.Frontiers in oncology · 2021Article
- Long-Lasting Response to Nivolumab for a Patient With Lynch Syndrome-Associated Lung Adenocarcinoma.JCO precision oncology · 2020Article
- Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.Scientific reports · 2019Article
- Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.Human mutation · 2019Article
- Clinical Characteristics and Prognosis Associated with Multiple Primary Cancers in Breast Cancer Patients.Journal of breast cancer · 2018Article
- Familial Lung Cancer: A Brief History from the Earliest Work to the Most Recent Studies.Genes · 2017Review
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLittle 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.
methodsTP53 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.
resultsWe 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).
conclusionsThere 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.
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