Author:

Abstract:

Using the Complete Genomics (CG) sequencing service, we have collected whole-genome data for normal tissue, primary and recurrent tumors in an ovarian cancer patient. As part of this service, mapping and variation data for the three samples were provided by CG. In addition, a collaboration with Real Time Genomics provided alternative mapping and variation data of the CG reads. To investigate the genetic variation underlying cancer development, large cancer consortia mainly use exon sequencing. The downside of this approach is that it allows only the detection of small variations such as single base variations and small indels. In contrast, whole genome sequencing also enables the identification of large-scale genomic variation such as copy number variations and inter/intra chromosomal rearrangements. The development of quantitative (i.e. for copy number) and qualitative (i.e. for breakpoints) methods for the identification of structural variations is therefore critical for the analysis of these samples. Even in this early stage, we have identified putative driver variations such as somatic missense mutations in TP53, MLH1 and CDC27. In summary, full genome sequencing allows the characterisation of all levels of genetic variation in a single experiment. Furthermore, for each sequenced tumor, cancer cell lines will be generated, to investigate response to therapies and to validate putative biomarkers.