ArticlePloS one2020
The Brazilian TP53 mutation (R337H) and sarcomas.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Clinicopathological and molecular features of uterine smooth muscle tumours in patients with Li-Fraumeni syndrome.Histopathology · 2026Article
- Personalized screening strategies forLancet regional health. Americas · 2025Article
- Somatic mutational profiling and clinical impact of driver genes in Latin-Iberian medulloblastomas: Towards precision medicine.Neuropathology : official journal of the Japanese Society of Neuropathology · 2025Article
- Exploring the frequency of a TP53 polyadenylation signal variant in tumor DNA from patients diagnosed with lung adenocarcinomas, sarcomas and uterine leiomyomas.Genetics and molecular biology · 2024Article
- Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.Journal of medical genetics · 2023Article
- Rectal leiomyosarcoma as the initial phenotypic manifestation of Li-Fraumeni-like syndrome: a case report and review of the literature.Journal of medical case reports · 2022Review
- What can we learn from more than 1,000 Brazilian patients at risk of hereditary cancer?Frontiers in oncology · 2022Article
- Melanoma in patients with Li-Fraumeni syndrome (Review).Experimental and therapeutic medicine · 2022Review
- Identification of theJCO global oncology · 2021Article
- Review
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Authors and funding
19 authors.
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Abstract
Sarcomas represent less than 1% of all solid neoplasms in adults and over 20% in children. Their etiology is unclear, but genetic susceptibility plays an important role in this scenario. Sarcoma is central in Li-Fraumeni Syndrome (LFS), a familial predisposition cancer syndrome. In Brazil, the high prevalence of p.Arg337His mutations in the TP53 gene brings about a unique condition: a cluster of LFS. In the present work, we studied 502 sarcoma patients not selected by age or family history in an attempt to assess the impact of the so-called "Brazilian germline TP53 mutation" (p.Arg337His) on this tumor type. We found that 8% of patients are carriers, with leiomyosarcoma being the main histologic type of sarcoma, corresponding to 52.5% of the patients with the mutated TP53 gene. These findings emphasize the importance of genetic counseling and can better guide the management of sarcoma patients.
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