Data/hora: 16/06/2024 03:50:58

Provedor de dados: | 74
País: | Brazil
Título: | Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era
Autores: | Macedo,Gabriel S.; Alemar,Barbara; Ashton-Prolla,Patricia.
Data: | 2019-01-01
Ano: | 2019
Palavras-chave: | BRCA1; BRCA2; Homologous recombination; Cancer predisposition; PARP inhibitors.
Resumo: | Abstract Germline mutations in BRCA1 and BRCA2 (BRCA) genes confer high risk of developing cancer, especially breast and ovarian tumors. Since the cloning of these tumor suppressor genes over two decades ago, a significant amount of research has been done. Most recently, monoallelic loss-of-function mutations in PALB2 have also been shown to increase the risk of breast cancer. The identification of BRCA1, BRCA2 and PALB2 as proteins involved in DNA double-strand break repair by homologous recombination and of the impact of complete loss of BRCA1 or BRCA2 within tumors have allowed the development of novel therapeutic approaches for patients with germline or somatic mutations in said genes. Despite the advances, especially in the clinical use of PARP inhibitors, key gaps remain. Now, new roles for BRCA1 and BRCA2 are emerging and old concepts, such as the classical two-hit hypothesis for tumor suppression, have been questioned, at least for some BRCA functions. Here aspects regarding cancer predisposition, cellular functions, histological and genomic findings in BRCA and PALB2-related tumors will be presented, in addition to an up-to-date review of the evolution and challenges in the development and clinical use of PARP inhibitors.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200215
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/1678-4685-gmb-2018-0104
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.42 n.1 suppl.1 2019
Fonte: | info:eu-repo/semantics/openAccess