Dados do Resumo

Título

The Role of the BRCA1 and BRCA2 Genes in Breast and Ovarian Cancer: Implications on Diagnosis and Prevention

Introdução

The BRCA1 and BRCA2 genes are essential for DNA repair and maintaining genomic stability. Mutations in these genes increase the risk of developing breast and ovarian cancer. Understanding these genes and their implications is fundamental for effective cancer screening, diagnosis and prevention strategies.

Objetivo

Studies show that mutations in the BRCA1 and BRCA2 genes are strongly associated with a significantly increased risk of breast and ovarian cancer. Genetic screening is essential for the early detection of these mutations and allows the adoption of effective prevention strategies, such as prophylactic mastectomy and salpingo-oophorectomy. These interventions can reduce the risk of developing the associated cancers, offering a proactive approach to health management and providing options for making informed decisions about cancer prevention. Early detection through genetic screening thus plays an important role in reducing the mortality associated with these types of cancer. This paper explores the impact of mutations in the BRCA1 and BRCA2 genes on cancer risk and discusses how genetic testing can help with early detection and personalized preventive measures.

Métodos

To investigate the association between mutations in the BRCA1 and BRCA2 genes and the risk of breast and ovarian cancer, a retrospective study was carried out with women who underwent genetic testing for these genes in 2022. Participants were selected based on a family history of cancer and/or a previous diagnosis of breast or ovarian cancer. Data was collected from the results of the genetic tests and the patients' medical records. The analysis involved comparing the incidence of cancer between women with mutations in the BRCA1 and BRCA2 genes and those without these mutations. Statistical methods were applied to assess the prevalence of mutations and their relationship with the occurrence of cancer. The study also reviewed prevention strategies and clinical outcomes for women diagnosed positive for mutations, including the effectiveness of preventive interventions, such as mastectomy and salpingo-oophorectomy, in reducing the risk of cancer.

Resultados

Recent studies in oncogenetics highlight important advances in understanding the risks associated with genetic mutations. Early identification of these mutations allows for effective preventive interventions, such as prophylactic breast and ovarian removal, which can significantly reduce the risk of developing cancer. In addition, new personalized therapy, based on specific genetic information, has shown promising results. Treatments targeting genetic mutations, such as PARP inhibitors for BRCA carriers, have improved the effectiveness of therapies and expanded treatment options. In that way, The National Health Service (NHS) in the UK has recently approved a new drug, Talazoparib (Talzenna), as a targeted treatment for advanced breast cancers driven by BRCA mutations.

Conclusões

The early identification of gene mutations and personalization of treatments are important for improving the prevention and management of the disease. These approaches not only help to reduce the risk of developing cancer, but also offer more effective treatment options, improving patients' quality of life.

Palavras Chave

Oncogenetics; BRCA Mutation; Cancer Prevention