Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis

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 inclu...

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Published in:	Journal of genetics and genomics 2018-01, Vol.45 (1), p.41-45
Main Authors:	Franch-Expósito, Sebastià, Esteban-Jurado, Clara, Garre, Pilar, Quintanilla, Isabel, Duran-Sanchon, Saray, Díaz-Gay, Marcos, Bonjoch, Laia, Cuatrecasas, Miriam, Samper, Esther, Muñoz, Jenifer, Ocaña, Teresa, Carballal, Sabela, López-Cerón, María, Castells, Antoni, Vila-Casadesús, Maria, Derdak, Sophia, Laurie, Steven, Beltran, Sergi, Carvajal, Jaime, Bujanda, Luis, Ruiz-Ponte, Clara, Camps, Jordi, Gironella, Meritxell, Lozano, Juan José, Balaguer, Francesc, Cubiella, Joaquín, Caldés, Trinidad, Castellví-Bel, Sergi
Format:	Article
Language:	eng
Subjects:	Colorectal Neoplasms - genetics Colorectal Neoplasms - pathology DNA Copy Number Variations - genetics Exome - genetics Genetic Predisposition to Disease Germ Cells High-Throughput Nucleotide Sequencing Humans Whole Exome Sequencing 拷贝数变体癌症定序描绘世界范围基因变化 DNA
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Summary:	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.
ISSN:	1673-8527