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	Provedor de dados Genet. Mol. Biol. (3) Autor Ashton-Prolla,Patricia (2) Alemar,Barbara (1) García-Miguel,Purificación (1) Lapunzina,Pablo (1) López,Rocío Ortiz (1) Macedo,Gabriel S. (1) Martínez,Augusto Rojas (1) Martínez-Glez,Víctor (1) Rodríguez-Laguna,Lara (1) Vargas,Fernando Regla (1) Mais... Palavra-chave Cancer predisposition (3) BRCA1 (2) BRCA2 (2) Breast cancer genes (1) Developmental syndrome (1) Homologous recombination (1) NGS (1) New technologies (1) PARP inhibitors (1) TP53 (1) Mais... Tipo do documento Info:eu-repo/semantics/article (3) Ano 2019 (1) 2014 (2) País Brazil (3) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 Primeira ... 1 ... Última Impact of NGS in the medical sciences: genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies Genet. Mol. Biol. Lapunzina,Pablo; López,Rocío Ortiz; Rodríguez-Laguna,Lara; García-Miguel,Purificación; Martínez,Augusto Rojas; Martínez-Glez,Víctor. The increased speed and decreasing cost of sequencing, along with an understanding of the clinical relevance of emerging information for patient management, has led to an explosion of potential applications in healthcare. Currently, SNP arrays and Next-Generation Sequencing (NGS) technologies are relatively new techniques used to scan genomes for gains and losses, losses of heterozygosity (LOH), SNPs, and indel variants as well as to perform complete sequencing of a panel of candidate genes, the entire exome (whole exome sequencing) or even the whole genome. As a result, these new high-throughput technologies have facilitated progress in the understanding and diagnosis of genetic syndromes and cancers, two disorders traditionally considered to be separate... Tipo: Info:eu-repo/semantics/article Palavras-chave: NGS; New technologies; Developmental syndrome; Cancer predisposition. Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200010 Prevalence and impact of founder mutations in hereditary breast cancer in Latin America Genet. Mol. Biol. Ashton-Prolla,Patricia; Vargas,Fernando Regla. Approximately 10% of all cancers are considered hereditary and are primarily caused by germline, high penetrance mutations in cancer predisposition genes. Although most cancer predisposition genes are considered molecularly heterogeneous, displaying hundreds of different disease-causing sequence alterations, founder mutations have been identified in certain populations. In some Latin American countries, founder mutations associated with increased risk of breast and other cancers have been described. This is particularly interesting considering that in most of these countries, populations are highly admixed with genetic contributions from native populations and from the influx of several distinct populations of immigrants. In this article, we present a... Tipo: Info:eu-repo/semantics/article Palavras-chave: Breast cancer genes; BRCA1; BRCA2; TP53; Cancer predisposition. Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200009 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 Registros recuperados: 3 Primeira ... 1 ... Última

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