Jon Thor Bergthorsson graduated with a B.Sc. in biology from the University of Iceland in 1991. He finished a M.Sc  degree in Health Sciences from the same university in 1995 and a PhD in 2008. His research has mostly focused on hereditary factors in cancer of the breast, colon, testis and prostate. He has worked as project leader at the Department of Pathology, University Hospital of Iceland; Department of Medical Genetics, University of Copenhagen, Denmark; DECODE genetics, Reykjavik, Iceland; Department of Oncology-Pathology, Cancer Center Karolinska, Solna, Sweden and as member of the prostate investigation group at the National Human Genome Research Institute, Bethesda Maryland, USA.