ReviewFamilial cancer2020
Radiotherapy-induced malignancies in breast cancer patients with TP53 pathogenic germline variants (Li-Fraumeni syndrome).
Review in Familial cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- SEOM clinical guideline on heritable TP53-related cancer syndrome (2022).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023Guideline
- Outcome of CyberKnife stereotactic radiosurgery for the brain metastases in patients with Li Fraumeni syndrome.Journal of neuro-oncology · 2026Article
- Dual radiation-induced sarcomas after breast cancer in a TP53 variant carrier.Familial cancer · 2026Review
- Review
- Postoperative radiotherapy-induced pulmonary leiomyosarcoma in breast cancer: a case report and literature review.Frontiers in oncology · 2026Article
- Clinical Features and Treatment Strategies of Li-Fraumeni Syndrome Patients With Inherited TP53 Mutations.Molecular genetics & genomic medicine · 2026Article
- Adjuvant Radiotherapy and Breast Cancer in Patients with Li-Fraumeni Syndrome: A Critical Review.Cancers · 2025Review
- [Pathogenic large duplication in TP53 as a hereditary predisposing factor in breast cancer].Magyar onkologia · 2025Article
- Current insights and future directions of Li-Fraumeni syndrome.Discover oncology · 2024Review
- BRCA2 and TP53 Mutations in a Breast Cancer Patient: A Case Report and Review of the Literature.Cureus · 2024Article
- Clinicopathological and genetic characterization of radiotherapy-induced undifferentiated pleomorphic sarcoma following breast cancer: a case series of three tumors and comprehensive literature review.Diagnostic pathology · 2024Article
- TP53-associated early breast cancer: new observations from a large cohort.Journal of the National Cancer Institute · 2024Article
- Article
- Melanoma in patients with Li-Fraumeni syndrome (Review).Experimental and therapeutic medicine · 2022Review
- Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched byFrontiers in oncology · 2022Article
- Radiation-Associated Sarcoma of the Breast in a Patient With a Germline Tumor Protein p53 Mutation.Cureus · 2021Article
- Lung Cancer in Li-Fraumeni Syndrome.JCO precision oncology · 2021Article
- Breast Cancer Adjuvant Radiotherapy in BRCA1/2, TP53, ATM Genes Mutations: Are There Solved Issues?Breast cancer (Dove Medical Press) · 2021Review
- Identification of the potential roles of ring finger protein 8 in TP53-mutant breast cancer.Oncology letters · 2021Article
- IsBMJ case reports · 2020Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The risk of radiotherapy-induced malignancies (RIMs) is a concern when treating Li-Fraumeni syndrome (LFS) or Li-Fraumeni Like (LFL) patients. However, the type of TP53 pathogenic germline variant may possibly influence this risk. TP53 p.R337H mutation is particularly prevalent in Brazil. We aimed to evaluate the outcomes of patients with pathogenic TP53 variants treated for localized breast cancer in a Brazilian cohort. We evaluated retrospectively a cohort of patients with germline TP53 pathogenic variants treated for localized breast cancer between December 1999 and October 2017. All patients were followed by the Hereditary Cancer Group of an academic cancer center. Our primary objective was to evaluate the occurrence of RIMs after adjuvant radiotherapy. Sixteen patients were evaluated; 10 (62.5%) had a germline TP53 p.R337H pathogenic variant. Median age was 39.8 years. Thirteen patients had invasive ductal carcinoma: 8 (61.5%) were hormone receptor-positive; 6 (46.1%), human epithelial growth factor receptor 2 (HER2)-amplified. Three patients had ductal carcinoma in situ. Most patients (N = 12/16, 75%) received adjuvant radiotherapy. After a median follow-up of 52.5 months, 2 patients (2/12, 16.6%) had RIMs. One had a fibrosarcoma and the other, a low-grade leiomyosarcoma. In the group treated with radiotherapy, one distant recurrence was diagnosed (1/12), and no loco-regional recurrence occurred. Among 4 patients who did not receive radiotherapy, 2 presented with loco-regional recurrence. In this cohort of patients with LFS enriched in TP53 p.R337H pathogenic variant, the incidence of RIMs after treatment of localized breast cancer was lower than previous literature. Nevertheless, rates of RIMs were still alarming. Early molecular diagnosis and careful evaluation of treatment risks and benefits are essential for these patients.
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