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
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 r...
| Autores principales: | , , , , , |
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| Formato: | Artículo |
| Lenguaje: | inglés |
| Publicado: |
2014
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| Materias: | |
| Acceso en línea: | http://eprints.uanl.mx/15232/1/331.pdf |
| _version_ | 1824414293406253056 |
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| author | Lapunzina, Pablo López, Rocío Ortiz Rodríguez Laguna, Lara García Miguel, Purificación Martínez, Augusto Rojas Martínez Glez, Víctor |
| author_facet | Lapunzina, Pablo López, Rocío Ortiz Rodríguez Laguna, Lara García Miguel, Purificación Martínez, Augusto Rojas Martínez Glez, Víctor |
| author_sort | Lapunzina, Pablo |
| collection | Repositorio Institucional |
| description | 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. |
| format | Article |
| id | eprints-15232 |
| institution | UANL |
| language | English |
| publishDate | 2014 |
| record_format | eprints |
| spelling | eprints-152322020-09-30T01:09:41Z http://eprints.uanl.mx/15232/ 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 Lapunzina, Pablo López, Rocío Ortiz Rodríguez Laguna, Lara García Miguel, Purificación Martínez, Augusto Rojas Martínez Glez, Víctor RB Patología 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. 2014 Article PeerReviewed text en cc_by_nc_nd http://eprints.uanl.mx/15232/1/331.pdf http://eprints.uanl.mx/15232/1.haspreviewThumbnailVersion/331.pdf Lapunzina, Pablo y López, Rocío Ortiz y Rodríguez Laguna, Lara y García Miguel, Purificación y Martínez, Augusto Rojas y Martínez Glez, Víctor (2014) 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. Genetics and molecular biology, 37 (1 supp). pp. 241-249. ISSN 1415-4757 http://doi.org/10.1590/S1415-47572014000200010 doi:10.1590/S1415-47572014000200010 |
| spellingShingle | RB Patología Lapunzina, Pablo López, Rocío Ortiz Rodríguez Laguna, Lara García Miguel, Purificación Martínez, Augusto Rojas Martínez Glez, Víctor 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 |
| thumbnail | https://rediab.uanl.mx/themes/sandal5/images/online.png |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | RB Patología |
| url | http://eprints.uanl.mx/15232/1/331.pdf |
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