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CC BY 4.0 · Brazilian Journal of Oncology 2026; 22: s00451815743
DOI: 10.1055/s-0045-1815743
Original Article
Clinical Oncology

Multidimensional Assessment of the Impact of Li-Fraumeni Syndrome on Patients in Educational and Pedagogical Settings: From Molecular to Psychosocial Aspects*

Authors

  • Rodrigo Rodrigues Alves de Pinho 

    1   Laboratory of Molecular and Translational Endocrinology, Division of Clinical Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
    2   Division of Emergency Medicine and Evidence-Based Medicine, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

  • Marina Malta Letro Kizys 

    1   Laboratory of Molecular and Translational Endocrinology, Division of Clinical Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

  • Maria Sharmila Alina de Souza 

    1   Laboratory of Molecular and Translational Endocrinology, Division of Clinical Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
    3   Laboratory of Genetic Bases of Thyroid Tumors, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

  • Ilda Sizue Kunii 

    1   Laboratory of Molecular and Translational Endocrinology, Division of Clinical Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

  • Maria Eduarda Castro 

    1   Laboratory of Molecular and Translational Endocrinology, Division of Clinical Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
    2   Division of Emergency Medicine and Evidence-Based Medicine, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

  • Victor Alexandre dos Santos Valsecchi 

    1   Laboratory of Molecular and Translational Endocrinology, Division of Clinical Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
    2   Division of Emergency Medicine and Evidence-Based Medicine, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

  • Janete Maria Cerutti 

    3   Laboratory of Genetic Bases of Thyroid Tumors, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

  • Lucas Leite Cunha 

    1   Laboratory of Molecular and Translational Endocrinology, Division of Clinical Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
    2   Division of Emergency Medicine and Evidence-Based Medicine, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

Funding RRAP: Programa Institucional de Bolsas de Iniciação Científica (PIBIC/CNPq), n° 1749/06. VASV: Doutorado Direto – Programa MD-PhD, number 2023/03161-7. The remaining authors declare that they did not receive funding from agencies in the public, private or non-profit sectors to conduct the present study. LLC: São Paulo Research Foundation (FAPESP; grant number 2024/06697-8). The following authors received individual support from FAPESP: Maria Eduarda de Castro (grant 2024/01435-5), Marina Malta Letro Kizys (2022/10804-9; 2025/00176-9)
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Abstract

Introduction

Li-Fraumeni syndrome (LFS) is a rare hereditary cancer predisposition syndrome caused by mutations in the TP53 gene. It presents a clinical challenge due to its wide phenotypic variability and significant psychosocial implications for affected individuals and their families.

Objective

To improve the identification, management, and follow-up strategies for LFS, with a focus on enhancing genetic counseling practices in a public health context.

Materials and Methods

The present cross-sectional case study applied a mixed-methods approach to evaluate a Brazilian family with one index case clinically diagnosed with LFS, along with three first-degree relatives. Genetic analyses were conducted using in-silico tools to identify pathogenic variants. Validated questionnaires assessed psychological and social impacts on family members.

Results

Genetic testing identified a pathogenic TP53 variant (c.586C > T) in the index patient, reported for the first time in Brazil. The three first-degree relatives tested negative. Psychosocial evaluation revealed emotional stress, uncertainty about the future, and heightened concerns regarding hereditary cancer risk, particularly for younger family members.

Conclusion

Early identification and close follow-up of individuals with LFS are essential to guide timely interventions. The findings support the development of more effective genetic counseling strategies tailored to affected families, contributing to public health initiatives and precise medical efforts.

Keywords

Li-Fraumeni syndrome - TP53 - psychosocial impact

Authors' Keywords

genetic counseling - hereditary predisposition to cancer - personalized interventions - public health strategies - multidisciplinary approach - oncogenetics

Authors' Contributions

RRAP and LLC: conceptualization, project administration, resources, investigation, formal analysis, writing – original draft, and writing – review & editing; MMLK: conceptualization, resources, investigation, formal analysis, writing – original draft, and writing – review & editing; MSAS: conceptualization, investigation, formal analysis, writing – original draft, and writing – review & editing; MEC, VASV, and JMC: project administration, investigation, formal analysis, writing – original draft, and writing – review & editing; and ISK: investigation, formal analysis, writing – original draft, and writing – review & editing. All authors have reviewed and approved the final version submitted for publication.


* Study developed at Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.




Publication History

Received: 16 April 2025

Accepted: 05 November 2025

Article published online:
24 March 2026

© 2026. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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Bibliographical Record
Rodrigo Rodrigues Alves de Pinho, Marina Malta Letro Kizys, Maria Sharmila Alina de Souza, Ilda Sizue Kunii, Maria Eduarda Castro, Victor Alexandre dos Santos Valsecchi, Janete Maria Cerutti, Lucas Leite Cunha. Multidimensional Assessment of the Impact of Li-Fraumeni Syndrome on Patients in Educational and Pedagogical Settings: From Molecular to Psychosocial Aspects*. Brazilian Journal of Oncology 2026; 22: s00451815743.
DOI: 10.1055/s-0045-1815743
 

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