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“Somatic Mutations in Cancer Genomes” or “The Spelling Errors that Cause Cancer”

April 17, 2014

Today I would like to introduce you to the research that I do in my laboratory and elaborate on my motivation to conduct clinically-relevant research.

The timing of my early career was just right to match my research interests with the direction the whole field was moving. Major breakthroughs in cancer research over the  past decade have connected basic science with clinical research and management of cancer patients. Many people refer to this type of research as “bench-to-bedside” or “translational” research, because the goal of basic research is to improve patient care.

I currently lead a “translational” research laboratory focused on lymphoid cancers – life-threatening diseases that arise from cells of the immune system. I had a lot of help from colleagues to set up my lab, and the rich research environment at the BC Cancer Agency’s Centre for Lymphoid Cancer gave me a head start.

I especially want to acknowledge three colleagues who can be viewed as pioneers of lymphoid cancer research and genome sequencing in B.C. and worldwide: Dr. Joseph Connors and Dr. Randy Gascoyne who had the vision to collect patients’ clinical and pathology data including treatment outcome information over decades, and Dr. Marco Marra who provided state-of-the-art sequencing infrastructure as head of the BC Cancer Agency’s Michael Smith Genome Sciences Centre.

My laboratory specializes in lymphoid cancers that are commonly known as Hodgkin and Non-Hodgkin lymphomas. One of the exciting new developments in this field is to decipher the spelling errors in the DNA that are unique to the tumour cells in comparison to the healthy cells of the body (so-called “somatic mutations”). The technology associated with identifying these DNA mutations is called “next generation sequencing” and we are currently performing many studies using this methodology to comprehensively describe the mutations found in all kinds of lymphomas.

However, the pure description of somatic mutations is only the first step of many that must occur to reach the goal of improving clinical management of patients. One of the most important steps is to understand what these mutations mean for cancer development and how they work on a mechanistic level. Results from these important studies can be used for two major goals:

1) Development of biological markers for clinical testing to guide treatment decisions. Here, the goal is to help physicians and patients decide what existing treatment will have the most benefit for the patient.

2) Development of novel therapeutics based on biological discovery. Here, the goal is to identify “molecular features” of the tumour cells that can be specifically targeted by new drugs. These drugs can be more efficient in killing the tumour cells and are less toxic to other organs of the body resulting in fewer side-effects than conventional chemotherapy.

Please stay tuned – next week I will tell you more about specific projects, recent successes of our group and how philanthropy is critically needed to stay at the forefront of science.