Somatic Mosaicism in Tumour Genetics

18_StefanAretz_2020_wbs.jpgProf. Stefan Aretz is deputy head at the Institute of Human Genetics, University of Bonn, Germany. He is professor of genetics of familial tumour syndromes.

In the NGS era, somatic (postzygotic) mutational mosaicism in genes underlying tumour predisposition syndromes is more frequently observed than previously thought and its importance is increasingly recognized. Confirmation of a mosaic mutation has major consequences for patient care and genetic counselling in families. The webinar will address relevant conditions prone to mosaicism as well as low-level mosaicism in blood resulting from circulating tumour DNA, and discuss diagnostic challenges and clinical implications.