Data/hora: 06/06/2024 08:26:43

Provedor de dados: | 74
País: | Brazil
Título: | 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
Autores: | Lapunzina,Pablo; López,Rocío Ortiz; Rodríguez-Laguna,Lara; García-Miguel,Purificación; Martínez,Augusto Rojas; Martínez-Glez,Víctor.
Data: | 2014-01-01
Ano: | 2014
Palavras-chave: | NGS; New technologies; Developmental syndrome; Cancer predisposition.
Resumo: | 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 diseases but that can share causal genetic alterations in a group of developmental disorders associated with congenital malformations and cancer risk. The purpose of this work is to review these syndromes as an example of a group of disorders that has been included in a panel of genes for NGS analysis. We also highlight the relationship between development and cancer and underline the connections between these syndromes.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200010
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47572014000200010
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.37 n.1 suppl.1 2014
Fonte: | info:eu-repo/semantics/openAccess