ArticleCancer science2021
Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT.
Article in Cancer science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Germline pathogenic variants in Japanese adolescents and young adults with advanced solid tumors: a nationwide tumor-normal paired sequencing study.International journal of clinical oncology · 2026Observational
- Molecular characteristics of isocitrate dehydrogenase 1 R132C-mutant diffuse gliomas: association with TP53 alterations and Li-Fraumeni syndrome.Acta neuropathologica communications · 2026Article
- Early-onset Colorectal Cancer in a Patient with Li-Fraumeni Syndrome: A Case Series and Literature Review.Internal medicine (Tokyo, Japan) · 2025Review
- Laparoscopic resection of liver PEComa associated with Li‑Fraumeni syndrome: A case report.Biomedical reports · 2024Article
- Li-Fraumeni Syndrome: Narrative Review Through a Case Report with Ten Years of Primary Tumor Remission Associated withInternational journal of molecular sciences · 2024Review
- Double Heterozygous Pathogenic Variants inInternational journal of molecular sciences · 2024Article
- Case series of Li-Fraumeni syndrome: carcinogenic mechanisms in breast cancer with TP53 pathogenic variant carriers.Breast cancer (Tokyo, Japan) · 2024Article
- Genetic Predisposition to Sarcoma: What Should Clinicians Know?Current treatment options in oncology · 2024Review
- Current prospects of hereditary adrenal tumors: towards better clinical management.Hereditary cancer in clinical practice · 2024Review
- A case of sequential medical therapy for advanced ureteral cancer in Li-Fraumeni syndrome.IJU case reports · 2023Article
- TP53 Variant in the Blood of a Patient with Gastric Cancer Undergoing Tumor Profiling Tests Diagnosed as Clonal Hematopoiesis.The American journal of case reports · 2022Article
- Case Report : Li-Fraumeni Syndrome with Central Nervous System Tumors in Two Siblings.BMC pediatrics · 2021Article
- Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT.Cancer science · 2021Article
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome, and the majority of patients with LFS have been identified with germline variants in the p53 tumor suppressor (TP53) gene. In the past three decades, considerable case reports of TP53 germline variants have been published in Japan. To the best of our knowledge, there have been no large-scale studies of Japanese patients with LFS. In this study, we aimed to identify Japanese patients with TP53 germline variants and to reveal the characteristics of LFS in Japan. We collected reported cases by reviewing the medical literature and cases diagnosed at the institutions of the authors. We identified 68 individuals from 48 families with TP53 germline pathogenic or likely pathogenic variants. Of the 48 families, 35 (72.9%) had missense variants, most of which were located within the DNA-binding loop. A total of 128 tumors were identified in the 68 affected individuals. The 128 tumor sites were as follows: breast, 25; bones, 16; brain, 12; hematological, 11; soft tissues, 10; stomach, 10; lung, 10; colorectum, 10; adrenal gland, 9; liver, 4; and others, 11. Unique phenotype patterns of LFS were shown in Japan in comparison to those in a large national LFS cohort study in France. Above all, a higher frequency of patients with stomach cancer was observed in Japanese TP53 germline variant carriers. These results may provide useful information for the clinical management of LFS in Japan.
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