Signatures of mutation and selection in the cancer genome

摘要: The cancer genome is moulded by the dual processes of somatic mutation and selection. Homozygous deletions in genomes occur over recessive genes, where they can confer selective growth advantage, fragile sites, are thought to reflect an increased local rate DNA breakage. However, most homozygous unexplained. Here we identified 2,428 746 cell lines. These overlie 11% protein-coding genes that, therefore, not mandatory for survival human cells. We derived structural signatures that distinguish between sites. Application clusters unexplained suggests many regions inherent fragility, whereas a small subset overlies genes. results illustrate how be used influences selection genomes. extensive copy number, genotyping, sequence expression data available this large series publicly lines renders them informative reagents future studies biology drug discovery.