Childhood cancer and genetic tumour risk syndromes – the geneticist's perspective

Ann Nordgren is Senior consultant and Professor in Clinical genetics at Gothenburg University and Karolinska Institutet. Her clinical work is mainly focused on syndrome diagnostics in intellectual disability malformation syndromes, overgrowth, and cancer predisposition syndromes. She is coordinator of a large prospective national study “Genomic Medicine Sweden Childhood Cancer Predisposition” offering WGS to all children diagnosed with cancer in Sweden irrespective of diagnosis.
Genetic predisposition is the most common known cause of cancer in childhood and has to date been described in 5-15% of cancer cases in childhood. Family history, congenital syndromes, multiple tumors and excessive toxicity reactions to standard treatment are known risk factors for underlying genetic predisposition. The advent of Massive Parallell Sequencing has led to increased knowledge about childhood cancer predisposition and the number of childhood cancer predisposing syndromes and cancer associated genes is steadily increasing. Precision medicine and preventive surveillance for early detection of cancer in patients with germline mutations are important new steps in medicine towards the goal of curing more children with cancer and avoid late side effects. This webinar will focus on childhood cancer predisposition and clinical benefits to individual patients when implementing WGS in the routine diagnostics for pediatric cancer.