The Cancer Genomics team has established a sample- and analysis procedure at KI/SciLife that serves biomarker driven randomized clinical trials and prospective research projects. The procedure encompasses reception and storage of biomaterial, subsequent processing for Illumina sequencing and analysis using an in-house developed bioinformatics pipeline and curation software. The setup is made possible through collaboration with KI biobank and Clinical Genomics at SciLife lab. The sample- and analysis procedure has been in prospective use since 2016 and handled over 5000 samples from ~50 hospitals in 6 European countries.
The team is devoted to continuous assay- and informatics development. We were first to develop an assay capable of identifying the microsatellite instability phenotype by analysis of dying cancer cell DNA debris extracted from plasma (circulating tumor DNA). In addition, the androgen receptor is the key transcription factor in metastatic prostate cancer. Treatment targeting the androgen receptor gives rise to multiple types of somatic perturbations associated with poor prognosis. These have commonly been investigated individually in retrospective studies with doubtful clinical utility. Therefore, we have established a comprehensive liquid biopsy profile investigating all types of somatic perturbations simultaneously and found that multi-level profiling of the androgen receptor is required for improved patient stratification.