2016 Fall Symposium


Uri Tabori, MD
Biallelic Mismatch Repair Deficiency Syndrome: Exploiting Hypermutations to Save Lives

Uri Tabori, MD


Learning Outcomes:
  • Discuss how novel findings affect our approach to the orphan syndrome biallelic mismatch repair deficiency.
  • Explain the effect of germline mutations on tumor behavior and clinical response to therapy.
  • Assess how hypermutations can be exploited for novel therapies including immunotherapy.

Dr Tabori is a Haematology/Oncology clinician scientist at the University of Toronto Hospital for Sick Children, associate professor of Pediatrics in the Institute of Medical Sciences, and Senior Scientist in the Genetic and Genomic Biology Research Institute. Dr Tabori’s main areas of interest are translational aspects of 1) telomere biology and self-renewal of pediatric cancers 2) genetic predisposition to pediatric brain tumors and 3) translational aspects for pediatric gliomas. Dr Tabori has developed and patented tools to determine cancer aggressiveness using genetic and epigenetic signatures of telomerase activation. He is also developing novel noninvasive tools to detect cancer in body fluids. Dr. Tabori and his team have recently uncovered the translational implications of the unique ultrahypermutation signature of children affected by germline mutations in mismatch repair genes, resulting in novel therapies for these patients and hypermutant cancers. He has also along with the PLGG taskforce uncovered genetic markers in pediatric low grade gliomas which affect the outcome of these cancers and are amenable to targeted therapies. Dr. Tabori plays leadership roles in several national and international committees, task forces and clinical trials in the International Society of Pediatric Oncology and the Children’s Oncology Group of North America. Dr Tabori is also the founding director of the International Biallelic Mismatch Repair Deficiency Consortium.