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The genetics and genomics of familial renal carcinoma

Published on October 29, 2015   47 min

A selection of talks on Genetics & Epigenetics

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This is Professor Eamonn Maher from the Department of Medical Genetics at University of Cambridge. I'm going to talk about the genetics and genomics of familial renal cell carcinoma.
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In terms of genetic predisposition to renal cell carcinoma, the evidence of this can come from both epidemiological and from clinical studies. So in epidemiological studies, it's been shown that there's an increased risk of renal cell carcinoma in the siblings of individuals who have renal cell carcinoma. And also an increased risk, although a little bit less, if the parent has had renal cell carcinoma. Clinically, it's estimated that about 3-5 percent of all patients with renal cell carcinoma will have a positive family history. And these cases are the most thought to be examples of dominantly inherited predispositions. Clinically, renal cell carcinoma is a component of several familial renal cancer syndromes. These tend to be rare, but the insight from these rare disorders has had important application to our knowledge of sporadic non-familial kidney cancer. There's been some investigations using genome-wide association studies in sporadic clear cell renal cell carcinoma. And interestingly, the loci identified have mapped onto the pathways implicated in familial renal cell carcinoma. So for example, HIF2A and cyclin D1 loci have been implicated in genome-wide association studies, and these are both downstream of the VHL pathway that's implicated in von Hippel-Lindau disease.

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The genetics and genomics of familial renal carcinoma

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