THE INFLUENCE OF GERMSIDE MUTATIONS IN BRCA1/BRCA2 GENES ON THE CHOICE OF TREATMENT FOR BREAST AND OVARIAN CANCER

Authors

DOI:

https://doi.org/10.51891/rease.v11i1.17888

Keywords:

BRCA1 Genes. BRCA2 Genes. Genetic Testing.

Abstract

This article aimed to evaluate the influence of germline mutations in the BRCA1 and BRCA2 genes on the choice of treatment for breast and ovarian cancer, considering advances in targeted therapies and preventive strategies. The methodology employed was a systematic review, conducted according to the PRISMA protocol, using the ScienceDirect and PubMed databases. Twelve studies, published between 2019 and 2024, that address the relationship between BRCA mutations and therapeutic efficacy were analyzed. The results demonstrated that mutations in BRCA1/2 are associated with greater sensitivity to PARP inhibitors, which increase progression-free survival in patients with breast and ovarian cancer. In addition, preventive strategies, such as mastectomies and prophylactic salpingo-oophorectomies, emerge as effective tools to reduce the risk of cancer in individuals with BRCA mutations, highlighting the impact of mutation location on clinical outcomes and the relevance of genotyping for management. The importance of ongoing research to expand therapeutic indications and integrate molecular, clinical and preventive approaches is emphasized, promoting truly patient-centered oncology. Personalized treatment, combined with ethical genetic counseling, represents significant advances in oncology, promoting better clinical outcomes and quality of life for patients.

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Author Biographies

Rebecca Nascimento da Silveira Gomes, Universidade Federal do Estado do Rio de Janeiro

Graduanda em Enfermagem. Universidade Federal do Estado do Rio de Janeiro (UNIRIO)

Juliana de Fatima da Conceição Veríssimo Lopes, Universidade Federal do Estado do Rio de Janeiro

Nutricionista Pós-Graduada em Nutrição Clínica. Universidade Federal do Estado do Rio de Janeiro (UNIRIO).

Leandro Alves Martins, UNIMAR

Graduando em Biomedicina. Universidade de Marília (UNIMAR)

Inglid Patrícia Barbosa, Faculdade de Ciências Médicas de São José dos Campos

Médica. Faculdade de Ciências Médicas de São José dos Campos (HUMANITAS).

Diego Jales Portela, Universidade Católica de Pernambuco

Graduando em Medicina. Universidade Católica de Pernambuco (UNICAP).

Kauanny Caroline Ribeiro de Lima, Universidade de Ribeirão Preto

Graduanda em Medicina.  Universidade de Ribeirão Preto (UNAERP).

Júlia Siqueira Fernandes Silveira, Faculdade Pernambucana de Saúde

Médica. Faculdade Pernambucana de Saúde (FPS).

Published

2025-01-15

How to Cite

Gomes, R. N. da S., Lopes, J. de F. da C. V., Martins, L. A., Barbosa, I. P., Portela, D. J., Lima, K. C. R. de, & Silveira, J. S. F. (2025). THE INFLUENCE OF GERMSIDE MUTATIONS IN BRCA1/BRCA2 GENES ON THE CHOICE OF TREATMENT FOR BREAST AND OVARIAN CANCER. Revista Ibero-Americana De Humanidades, Ciências E Educação, 11(1), 1326–1340. https://doi.org/10.51891/rease.v11i1.17888