Overview of germline variants in the BRCA2 gene in cohort of Brazilian women with a high risk of hereditary breast cancer
DOI:
https://doi.org/10.29289/2594539420220003Palavras-chave:
breast cancer, BRCA2 gene, hereditary breast and ovarian cancer syndrome, Cohort studyResumo
ABSTRACT: Introduction: Malignant breast cancer is the second most common type of cancer among women in the world, leaving behind nonmelanoma skin cancer. The aim of this study was to identify germline variants in the BRCA1 and BRCA2 genes in women diagnosed with breast cancer in the southeastern region of Brazil. Methods: This study is part of a retrospective study, performed from a hospital-based cohort, consisting of 522 women. 92 patients were excluded from the study because they had carcinoma in situ and did not present clinical information, totaling 430 patients. Of these, we performed molecular investigation in 46 patients. BRCA2 variants were detected in 10/46 (22%) women. From 7 missense variants identified, 5 and 2 showed benign and uncertain significance, respectively. Two synonymous variants not previously reported were considered of uncertain significance (c.2622T>A; c.2721G>A), and one nonsense variant showed pathogenic clinical significance (c.2847T>A). Results: The results showed that gene sequencing in individuals with a high risk of hereditary cancer is necessary, as it may reveal new variants, or initially described with uncertain significance. Conclusion: Although this study was conducted with a small cohort of selected breast cancer patients, it reinforces the importance of investigating the Brazilian population due to the finding of the pathogenic variant and genetic counseling.
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Copyright (c) 2026 Renata Mendes de Freitas, Gilda Alves, Maximiliano Ribeiro Guerra, Angélica Atala Lombelo Campos, Lucas Delmonico, Pedro Henrique de Oliveira Medeiros, Rafaela Russi Ervilha, Jane Rocha Duarte Cintra, Maria Teresa Bustamante Teixeira
Este trabalho está licenciado sob uma licença Creative Commons Attribution 4.0 International License.
