2018 Lorne Genome Conference

Professor Kenneth Kinzler

Genetics of Human Cancer

Along with Bert Vogelstein, Dr. Kinzler has been called a member of the “dynamic duo,” for his tireless devotion to defining the genetic alterations responsible for human tumorigenesis. His early work concerning colorectal cancer (CRC) led to the discovery that the presence of intestinal polyps can be attributed to mutations within the adenomatous polyposis coli (APC) gene. Since this observation, Dr. Kinzler continued to investigate the role of APC in CRC, eventually elucidating the role of most of the proteins within the APC signaling cascade. His APC studies marked the beginning of a career that would push the technological boundaries of mutation detection in human cancer. To date, Dr. Kinzler and his colleagues have played a pivotal role in defining more than 20 major cancer genes including APC, β-catenin, MSH2, MLH1, MSH6, FBXW7, PIK3CA, PALB2, ARID1A, ARID2, DAXX, ATRX, CIC, FUBP1, GNAS, RNF43, IDH1 and IDH2 as well as the genetic bases for several forms of inherited predispositions to cancers.

Dr. Kinzler is also recognized for developing novel genetic methods for analyzing gene expression and mutations. Dr. Kinzler developed SAGE (serial analysis of gene  expression), a bioinformatics platform that allowed quantitative analysis of global gene expression profiles in an unbiased manner. Using this approach, he provided the first global picture of gene expression in human cancer. It was through his use of SAGE that Dr. Kinzler coined the term “transcriptome.” This term, which refers to all of the present RNA molecules within a given sample or population, is now commonly used to describe observed global gene expression patterns. Dr. Kinzler, along with Dr. Vogelstein, was also the first to recognize the power of digital analysis of DNA for mutations detection. Together, using digital approaches, they pioneered new clinical applications for rare mutation detection in samples from cancer patients.

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