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Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era Genet. Mol. Biol.
Macedo,Gabriel S.; Alemar,Barbara; Ashton-Prolla,Patricia.
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...
Tipo: Info:eu-repo/semantics/article Palavras-chave: BRCA1; BRCA2; Homologous recombination; Cancer predisposition; PARP inhibitors.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200215
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