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Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis
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作者 Sebastia Franch-Exposito Clara Esteban-Jurado +25 位作者 Pilar Garre Isabel Quintanilla Saray Duran-Sanchon Marcos Diaz-Gay Laia Bonjoch Miriam Cuatrecasas Esther Samper Jenifer Munoz Teresa Ocana Sabela Carballal maria Lopez-Ceron Antoni Castells maria vila-casadesus Sophia Derdak Steven Laurie Sergi Beltran Jaime carvajal Luis Bujanda Clara Ruiz-Ponte Jordi Camps Meritxell Gironella Juan Jose Lozano Francesc Balaguer Joaquin Cubiella Trinidad Caldes Sergi Castellvi-Bel 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2018年第1期41-45,共5页
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
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