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  • Rare germline copy number v...
    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

    Journal of genetics and genomics, 01/2018, Letnik: 45, Številka: 1
    Journal Article

    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.