Copy-Number Alterations in the Colorectal Cancer Genome

摘要: Colorectal cancer (CRC) has classically been divided into two main genetic/molecular subtypes; tumors characterized by chromosomal instability (CIN) and those with microsatellite (MSI). Although cases MSI often have relatively bland copy-number profiles, CIN typically possess many somatic alterations (SCNAs). Thanks to the remarkable progress in profiling techniques both increased resolution sample throughput, landscape of SCNAs CRC increasingly begun be revealed. Many arm-level are shared epithelial cancers but some them unique gut or CRC. Gain 8q, 20p/q loss 17p commonly observed across adenocarcinomas. More highly recurrent gains 13q. Important focal include amplifications 8q at MYC, 20q around BCL2L1, 11p IGF2, miR-483, 17q ERBB2. The amplification ERBB2 is particularly important because it clinically targetable. Focal tumor suppressor genes such as TP53 SMAD4 reflects selective advantage these factors. we began reveal SCNA CRC, yet fully appreciate biologic rationale significance for this spectrum structural genomes cancers.