Genomic Sequencing of Colorectal Adenocarcinomas

This study was the first-known effort to complete the complete genome sequencing of primary colorectal adenocarcinomas and the matched germline genome. Nine colorectal adenocarcinomas selected on the basis of having chromosomal instability were subjected to 'shotgun' Illumina sequencing with 101-bp paired end reads to an approximate goal of 30x coverage of tumor and of normal. From these sequences, we used various computational techniques to identify somatic point mutations, insertion/deletions and structural rearrangements in these tumors. From these data, we identified new insights into the rates of background mutations in these cancers, new spectrums of structural alterations including the identification of a novel in-frame fusion gene.]]> In this study, nine fresh frozen primary colorectal adenocarcinomas and matched fresh frozen adjacent tissue were subjected to whole genome sequencing with the Illumina sequencing platform. Based upon the computational analysis of the these data, several candidate in-frame fusion genes were identified. One of these, a fusion of VTI1A and TCF7L2, was identified in 3 of 97 samples when the initial hits were expanded to a larger validation cohort of primary colorectal adenocarcinoma cDNAs.]]>