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March 26, 2026Brazilian Journal of OncologyOpen Access

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

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Authors

RPR. PinhoMKMarina M. L. KizysMSMaria Sharmila Alina de Souza

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Overview

Cross-sectional study evaluates genetic, psychosocial, and educational aspects of Li-Fraumeni syndrome, suggesting improved counseling strategies.

Key Points

  • To assess the impact of Li-Fraumeni syndrome on affected individuals and improve genetic counseling strategies.
  • Mixed-methods approach evaluated a Brazilian family with LFS.
  • Genetic analyses using in-silico tools identified pathogenic variants.
  • Validated questionnaires assessed psychosocial impacts on family members.
  • Identified a novel pathogenic TP53 variant in the index patient.
  • Three first-degree relatives tested negative for the TP53 variant.
  • Psychosocial evaluation revealed emotional stress and uncertainty about cancer risk.

Cite This Study

Pinho et al. (2026) studied this question.

synapsesocial.com/papers/69c4cc69fdc3bde448917a23https://doi.org/10.1055/s-0045-1815743
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A Case of Breast Cancer Patient with Li–Fraumeni Syndrome: Psychosocial Implications and Literature Review2024
  2. 2Cancer Predisposition in Li-Fraumeni Syndrome2026
  3. 3Li-Fraumeni Syndrome With Six Primary Tumors—Case Report2024 · 5 citations
  4. 4Profile of breast cancer in patients with Li-Fraumeni syndrome: An institutional experience.2024
  5. 5Psychosocial burdens and unmet supportive care needs of partners and relatives of individuals with Li‐Fraumeni syndrome: A mixed‐methods study2025