Multi-omics analyses in cancer
PI Emma Tham, Senior researcher
Genetic alterations underlie all forms of cancer: in most cases, these changes are somatic and give rise to sporadic cancer. In 10% of cases, they are inherited and constitutional and cause hereditary cancer. Individuals carrying a predisposing genetic variant have an increased risk of developing cancer (and sometimes other symptoms) and benefit from prevention schemes. However, as most hereditary cancer is rare, knowledge regarding the causative genes, as well as evidence regarding cancer risks and surveillance are lacking.
When tumor cells die, they release their DNA into body fluids such as blood and thus it is possible to detect their genetic alterations in a blood sample (so called liquid biopsy). These cell-free tumor DNA (ctDNA) fragments make up a minor proportion of the cell free DNA fragments that mostly derive from the blood cells and therefore, very sensitive methods are required in order to detect them. ctDNA has the potential to revolutionize cancer diagnostics and are of particular relevance in high-risk individuals with cancer predisposition. ctDNA may also serve as a predictive biomarker that can be used to monitor therapy response and minimal residual disease in sporadic cancers.
Our research involves the following studies:
The Cancer Predisposition study (CAP) aims to discover new genetic causes for hereditary cancer and to characterize rare cancer syndromes in order to offer personalized prevention.
Multi-omics analyses in liquid biopsies (Multi-Liq) aims to develop multimodal techniques to analyse liquid biopsies with a focus on cell-free tumor DNA for early diagnosis, prognosis and monitoring of cancer. Our major studies are on paediatric brain tumours, lymphomas, upper tract urothelial cancer and HPV-positive cancers.
We work closely with Clinical Genetics and Genomics at Karolinska University Hospital and with Clinical Genomics, SciLifeLab on molecular diagnosis and monitoring of hematological malignancies and investigation of patients with hereditary cancer. We are also active in Genomic Medicine Sweden (GMS) and Genomic Medicine Centre Karolinska (GMCK) within solid tumors and liquid biopsy and involved in the European Reference Network for Genetic Tumor Risk Syndromes (GENTURIS).