Investigating The Genetic Basis Of Inherited Renal Cell Carcinoma

肾癌是一个严重的医学问题。转移性疾病患者的5年生存率为10%。我们需要提高对肾癌的认识，以便我们能够产生更有效的治疗方法。一些肾癌在家庭中运行，虽然罕见，但它们为肾癌如何发生提供了很好的见解。这导致了药物的开发，彻底改变了肾癌的治疗。家族性肾癌患者允许我们（Mariam Jafri博士和Eamonn Maher教授）研究他们的血液中可能导致癌症易感性的DNA改变（错误）。由于在肾癌中检测到的错误相对较少，因此可能存在其他未知的变化，这些变化可能在疾病中很重要。我们希望通过寻找家族性癌症患者基因中的错误印记来识别这些改变。我们将着眼于特别有趣的基因，并使用一种新技术，着眼于一个人的DNA中包含的大多数基因。一旦我们确定了改变的基因，我们将尝试将它们用于治疗肾癌，或者如果我们不知道它们是如何工作的，我们将尝试确定它们的功能。

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.