ANALYSIS OF THE R337H VARIANT IN THE TP53 GENE IN A GROUP OF PREMENOPAUSAL WOMEN WITH BREAST CANCER FROM THE CENTRALWESTERN REGION OF BRAZIL: A PILOT STUDY

Authors

  • Igor Lopes dos Santos Pontifícia Universidade Católica de Goiás – Goiânia (GO), Brazil.
  • Nathalia Amaral Nogueira Universidade Federal de Goiás – Goiânia (GO), Brazil.
  • Luciana Corrêa Amador Universidade Federal de Goiás – Goiânia (GO), Brazil.
  • Pedro Paulo Batista de Abreu Centro Universitário Atenas – Paracatu (MG), Brazil.
  • Deidimar Cássia Batista Abreu Pontifícia Universidade Católica de Goiás – Goiânia (GO), Brazil.
  • Flavio Monteiro Ayres Universidade Estadual de Goiás – Goiânia (GO), Brazil.
  • Vera Aparecida Saddi Pontifícia Universidade Católica de Goiás – Goiânia (GO), Brazil.

DOI:

https://doi.org/10.29289/259453942022V32S2053

Keywords:

Breast cancer, Prognosis, Premenopausal, Germline mutation, TP53 gene

Abstract

Objective: The aim of this study was to investigate the frequency of the R337H variant in the TP53 gene in a group of premenopausal women with breast cancer from the central-western region of Brazil and its possible associations with clinical, pathological, and prognostic aspects. Methods: The research comprised a pilot study of 36 patients with breast carcinomas diagnosed before the age of 50, selected from the records of the Laboratory of Immunohistochemistry, Department
of Pathology, Hospital Araújo Jorge, in Goiânia (GO). DNA extraction was performed with QIAamp DNA FFPE Advanced
(Qiagen, Germany) and the R337H variant was investigated in 36 patients using the polymerase chain reaction-restriction
fragment length polymorphism method. Results: Among 36 samples of breast cancer diagnosed in premenopausal women,
3 were positive for the R337H variant in the TP53 gene (8.3%). Furthermore, all three patients presented a very diverse
phenotypic heterogeneity. Conclusion: Carriers of the R337H variant are no longer limited to the south and southwestern
regions of Brazil and might be further investigated in a larger population of premenopausal breast cancer patients from
the central-western region of Brazil.

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Published

2026-04-01

How to Cite

Santos, I. L. dos, Nogueira, N. A., Amador, L. C., Abreu, P. P. B. de, Abreu, D. C. B., Ayres, F. M., & Saddi, V. A. (2026). ANALYSIS OF THE R337H VARIANT IN THE TP53 GENE IN A GROUP OF PREMENOPAUSAL WOMEN WITH BREAST CANCER FROM THE CENTRALWESTERN REGION OF BRAZIL: A PILOT STUDY. Mastology, 32(suppl.2). https://doi.org/10.29289/259453942022V32S2053

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