Investigating The Genetic Basis Of Inherited Renal Cell Carcinoma

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Kidney cancer is a serious medical problem. The five year survival of patients with metastatic disease is 10%. We need to improve our understanding of kidney cancer so that we can produce more effective treatments. Some kidney cancers run in families, and although rare they have provided great insights in how kidney cancer occurs. This has led to the development of drugs that have revolutionised kidney cancer treatment. Patients with familial kidney cancer have kindly allowed us (Dr Mariam Jafri and Professor Eamonn Maher) to investigate their blood for alterations (misprints) in their DNA which may cause cancer susceptibility. As relatively few misprints have been detected in kidney cancer, there maybe other unknown alterations that maybe important in the disease. We hope to identify these alterations by looking for misprints in the genes of patients with familial cancer. We will look at particular interesting genes and use a new technique that looks at most of the genes that are contained in a person‘s DNA. Once we have identified altered genes, we will either try to use them in the treatment of kidney cancer or if we do not know about how they work, we will try and determine their function.