EARLY-ONSET BREAST CANCER PATIENTS FULFILLING HEREDITARY BREAST AND OVARY CANCER AND LI-FRAUMENI-LIKE SYNDROMES CAN HARBOR TP53 PATHOGENIC VARIANTS

Autores

  • Paula Francinete Faustino da Silva Universidade Federal de Goiás – Goiânia (GO), Brazil.
  • Rebeca Mota Goveia Universidade Federal de Goiás – Goiânia (GO), Brazil.
  • Thais Bomfim Teixeira Universidade Federal de Goiás, Hospital das Clínicas, Goiânia (GO) – Brazil.
  • Bruno Faulin Gamba Universidade Federal de Goiás – Goiânia (GO), Brazil.
  • Aliny Pereira de Lima Universidade Federal de Goiás – Goiânia (GO), Brazil.
  • Sílvia Regina Rogatto University of Southern Denmark, Institute of Regional Health Research – Odense, Denmark.
  • Ruffo de Freitas Junior Universidade Federal de Goiás, Hospital das Clínicas, Goiânia (GO) – Brazil.
  • Elisângela de Paula Silveira- Lacerda Universidade Federal de Goiás – Goiânia (GO), Brazil.

DOI:

https://doi.org/10.29289/259453942022V32S2018

Palavras-chave:

TP53, Breast cancer, Li-Fraumeni syndrome, Cancer predisposition

Resumo

Objective: We investigate the prevalence of TP53 germline pathogenic variants in a cohort of 83 breast cancer patients
and 217 family members from the Midwest Brazilian region. Methods: All patients met the clinical criteria for hereditary
breast and ovarian cancer syndrome (HBOC) and were negative for BRCA1 and BRCA2 mutations. Moreover, 40 index
patients fulfilled HBOC and the Li-Fraumeni-like syndromes (LFL) criteria. The samples were tested using next-generation
sequencing for TP53. Results: Three patients harbored TP53 missense pathogenic variants (p.Arg248Gln, p.Arg337His,
and p.Arg337Cys), confirmed by Sanger sequencing. One patient showed a large TP53 deletion (exons 2–11), which was
also confirmed. The p.R337H variant was detected in only one patient. Conclusion: This study concluded that 4 out of 83
HBOC and LFL patients presented TP53 pathogenic variants at a young age. In contrast to other Brazilian regions, the
TP53 p.R337H variant appeared with low prevalence.

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Publicado

2026-04-01

Como Citar

Silva, P. F. F. da, Goveia, R. M., Teixeira, T. B., Gamba, B. F., Lima, A. P. de, Rogatto, S. R., … Lacerda, E. de P. S.-. (2026). EARLY-ONSET BREAST CANCER PATIENTS FULFILLING HEREDITARY BREAST AND OVARY CANCER AND LI-FRAUMENI-LIKE SYNDROMES CAN HARBOR TP53 PATHOGENIC VARIANTS. Mastology, 32(suppl.2). https://doi.org/10.29289/259453942022V32S2018

Edição

v. 32 n. suppl.2 (2022)

Seção

Commented Poster

Licença

Copyright (c) 2026 Paula Francinete Faustino da Silva, Rebeca Mota Goveia, Thais Bomfim Teixeira, Bruno Faulin Gamba, Aliny Pereira de Lima, Sílvia Regina Rogatto, Ruffo de Freitas Junior, Elisângela de Paula Silveira- Lacerda

Creative Commons License
Este trabalho está licenciado sob uma licença Creative Commons Attribution 4.0 International License.