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 her...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.展开更多
基金supported by CIBEREHD (to SFE, CEJ and JM)CIBERER+7 种基金Fondo de Investigación Sanitaria/FEDER (14/00173, 14/ 00230 and 17/00878)Ministerio de Economía y Competitividad (SAF2014-54453-R)Fundación Científica de la Asociación Espanola contra el Cáncer (GCB13131592CAST)PERIS (SLT002/16/ 00398, Generalitat de Catalunya)COST Action BM1206Beca Grupo de Trabajo “Oncología” AEG (Asociación Espanola de Gastroenterología)CERCA Programme (Generalitat de Catalunya)Agència de Gestió d'Ajuts Universitaris i de Recerca (Generalitat de Catalunya, FI 2017 B00619 to MDG, 2014SGR255, 2014SGR135)
文摘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.