Sara Orrsjö
A5092357100- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Glioma Diagnosis and Treatment
- Lung Cancer Treatments and Mutations
- Genetics, Bioinformatics, and Biomedical Research
- Pancreatic and Hepatic Oncology Research
- Biomedical and Engineering Education
University of Gothenburg
2023-2024
Sahlgrenska University Hospital
2023-2024
PURPOSE Several studies have indicated that broad genomic characterization of childhood cancer provides diagnostically and/or therapeutically relevant information in selected high-risk cases. However, the extent to which such offers clinically actionable data a prospective broadly inclusive setting remains largely unexplored. METHODS We implemented whole-genome sequencing (WGS) tumor and germline, complemented by whole-transcriptome (RNA-Seq) for all children diagnosed with primary or...
BackgroundChildhood cancer predisposition (ChiCaP) syndromes are increasingly recognized as contributing factors to childhood development. Yet, due variable availability of germline testing, many children with ChiCaP might go undetected today. We report results from the nationwide and prospective study that investigated diagnostic yield clinical impact integrating whole-genome sequencing (gWGS) tumor systematic phenotyping in solid tumors.MethodsgWGS was performed 309 at diagnosis CNS (n =...