Study of Hereditary Renal and Other Familial Syndromes

在美国，每年约有36，000例肾癌新发病例，12，000人死于该疾病。肾癌是一种国际性疾病。新的综合征正在被识别，相关症状的表征以及与疾病相关的基因的鉴定对于开发适当的治疗是重要的。这个项目的继续是非常重要的，因为，目前，有肾癌的家庭没有任何已知的遗传变化。因此，我们需要从形态学和遗传学上研究这些家族，并尝试鉴定可用作肿瘤标志物的新蛋白质。本研究的具体目的是：1）确定新的肾脏综合征的类型和形态学特征; 2）确定负责这些新的综合征的基因和分子变化; 3）确定基因型/表型相关性;和4）研究相关病变，如子宫和其他平滑肌肿瘤，皮肤，肺和卵巢肿瘤，并调查它们是否具有相似的遗传变化。这项研究的继续是必不可少的;首先，因为这些肿瘤只能通过它们的形态来识别，其次，因为我们缺乏早期检测和良好治疗形式的标志物。

In the United States there are approximately 36,000 new cases of kidney cancer each year, and 12,000 individuals die from the disease. Kidney cancer is an international disease. New syndromes are being recognized and characterization of the associated symptoms as well as identification of the genes involved in the disease are important to develop appropriate therapies. Continuation of this project is of great importance because, at the moment, there are families with kidney cancer that do not have any of their genetic changes known. Therefore we need to study these families morphologically and genetically, as well as try to identify new proteins useful as tumor markers. The specific aims of this study are to: 1) Define the types and morphological characteristics of new renal syndromes; 2) Identify the genes and molecular changes responsible for these new syndromes; 3) Identify genotype/ phenotype correlation; and 4) Study the associated lesions such as uterine and other smooth muscle tumors, skin, lung and ovarian tumors, and investigate if they share similar genetic changes. Continuation of this research is essential; first, because these tumors can only be recognized by their morphology and secondly, because we lack both markers for early detection and good forms of therapy.