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Common and rare variants in the sequence of the human genome that affect the risk of cancers and other diseases of man

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If you have a question about this talk, please contact Kate Davenport.

I will discuss how common variants in the sequence of the human genome confer risk of common diseases, often by deciding where individuals are placed on a normal distribution curve of physiologic function. I will give a few examples from the work of the deCODE laboratory such as the ones on thyroid cancer, urinary bladder cancer and sick sinus syndrome. Then I will discuss the role of rare variants with large effects on the risk of common diseases and give examples from ovarian cancer, basal cell carcinoma and Alzheimer’s disease. I will discuss some of the analytical and technical challenges facing those who search for the rare variants. I will place emphasis on the role of de novo mutations in the pathogenesis of diseases of the brain such as autism and schizophrenia. I will end my talk by discussing briefly how genetic and environmental components of the risk of common diseases are entwined.

This talk is part of the Cancer Research UK Cambridge Institute (CRUK CI) Seminars in Cancer series.

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