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| Título: | Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis |
Autor: | Franch-Expósito, Sebastià; Carvajal, Jaime J. CSIC ORCID; Castellví-Bel, Sergi | Fecha de publicación: | 2018 | Editor: | Elsevier | Citación: | Journal of Genetics and Genomics 45(1): 41-45 (2018) | Resumen: | Colorectal cancer (CRC) is one of the most common neoplasms and an important cause of mortality worldwide (http://globocan.iarc.fr/). Approximately 35% of the variation in CRC susceptibility is likely due to heritable factors (Lichtenstein et al., 2000). Genetic variations in the human genome include single nucleotide variants (SNVs), short insertions and deletions, and larger structural variants resulting in gain or loss of genomic DNA larger than 1 kb, such as copy number variants (CNVs). Leaving aside the importance of CNVs in sporadic tumor development, these variants can also be present in the germline DNA of healthy individuals from the general population and be considered polymorphic. Common germline CNVs can confer a small increase in the risk of predisposition to disease, whereas rare CNVs have been linked to hereditary cancer predisposition including CRC. Recent examples include alterations involving EPCAM, PTPRJ, CDH18, GREM1 and FOCAD (Ligtenberg et al., 2009; Venkatachalam et al., 2011; Jaeger et al., 2012; Weren et al., 2015). | Descripción: | EPICOLON consortium: et al. | URI: | http://hdl.handle.net/10261/163671 | DOI: | 10.1016/j.jgg.2017.12.001 | Identificadores: | doi: 10.1016/j.jgg.2017.12.001 issn: 1673-8527 |
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