Study of Hereditary Renal and Other Familial Syndromes

在美国，每年大约有36000例新的肾癌病例，12000人死于这种疾病。肾癌是一种国际性疾病。人们正在认识到新的综合征，确定相关症状的特征以及确定与疾病有关的基因对于开发适当的治疗方法很重要。这个项目的继续是非常重要的，因为目前，有肾癌的家庭，他们的任何基因变化都不为人所知。因此，我们需要从形态学和遗传学上对这些家族进行研究，并尝试识别新的肿瘤标记蛋白。本研究的具体目的是：1)明确新发肾综合征的类型和形态学特征；2)确定导致这些新综合征的基因和分子变化；3)确定基因型/表型相关性；4)研究相关病变，如子宫及其他平滑肌肿瘤、皮肤、肺和卵巢肿瘤，研究它们是否有相似的基因变化。继续进行这项研究是必要的；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的标记和良好的治疗形式。

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.