Sweden Cancerome Analysis Network - Breast (SCAN-B): a large-scale multicenter infrastructure towards implementation of breast cancer genomic analyses in the clinical routine

The Sweden Cancerome Analysis Network - Breast (SCAN-B) study was initiated in 2010 as a multicenter prospective population-based observational study with longsighted aims to analyze breast cancers with next-generation genomic technologies for translational research and integrated with healthcare; decipher fundamental tumor biology from these analyses; utilize genomic data to develop and validate new clinically-actionable biomarker assays; and establish real-time clinical implementation of molecular diagnostic, prognostic, and predictive tests. In the first phase, we focus on molecular profiling by next-generation RNA-sequencing. Gene expression profiles, mutational profiles, and transcript isoform-level data will be analyzed in the context of patient information, clinicopathological variables, and outcome, with the purpose to develop new molecular diagnostic assays for breast cancer. Additional genome-scale RNA, DNA, and protein analyses will be performed in the future.

As of October 2018, over 12,000 patients have enrolled in the study, representing approximately 85% of all eligible patients within the catchment region. Tissue and blood collection is integrated within healthcare routines and clinical information is provided from national quality registries. To date, over 8000 breast tumors have been profiled by RNA-sequencing, making this to our knowledge the largest breast cancer RNA-seq dataset of its kind.