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 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.
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
Pablo
P
Lapunzina
Departamento de Bioquímica y Medicina Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León. Monterrey, Nuevo León, México . ; Centro de Investigación y Desarrollo en Ciencias de la Salud, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, México .
Rocío Ortiz
RO
López
Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
Lara
L
Rodríguez-Laguna
Unidad de Oncología Pediátrica, Hospital Infantil La Paz, Madrid, Spain .
Purificación
P
García-Miguel
Departamento de Bioquímica y Medicina Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León. Monterrey, Nuevo León, México . ; Centro de Investigación y Desarrollo en Ciencias de la Salud, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, México .
Augusto Rojas
AR
Martínez
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
Víctor
V
Martínez-Glez
NGS; cancer predisposition; developmental syndrome; new technologies