Analysis of Risks and Outcomes for Rare Cancers

描述(申请人提供)：作为一个整体，罕见癌症(根据孤儿疾病法案的定义，那些在美国影响少于20万人的癌症)占美国癌症诊断的27%和癌症死亡的25%。然而，尽管新的疗法改变了一些常见癌症的治疗方式，但在治疗大多数罕见癌症方面进展甚微，针对这些疾病的研究也很少。该应用程序的主要目标是启动一项研究计划，旨在加深对被诊断为罕见癌症的患者的病因和长期结果的了解。在我们的分析中，我们将利用癌症遗传学网络(CGN)和罕见癌症遗传学注册中心(RCGR)收集的数据。CGN于1998年开发，除了5000多名未受影响的家庭成员外，还有超过15,000名癌症患者(其中873人患有罕见的癌症)。RCGR由2009年NIH挑战赛拨款资助，有400多名患有罕见癌症的参与者被CGN网站的子集招募。芬克尔斯坦博士是这两个人的PI CGN和RCGR。CGN和RCGR都没有为支持分析为登记册收集的数据提供资金。该应用程序计划对与罕见癌症风险升高相关的特征以及这些疾病的长期结果进行分析。具体目标包括：1.从CGN和RCGR收集的数据中创建一个单一的研究数据集，包括患有罕见癌症的受试者、患有较常见癌症的受试者和参与者的未受影响的家庭成员。可用的数据包括人口统计、生活方式和环境暴露、病史和家族史、基因测试结果、癌症诊断、合并症、治疗和生存状况。在CGN参与者方面，我们对疾病和治疗的临床、心理和身体结果进行了10多年的跟踪调查。2.使用CGN和RCGR的组合数据，确定与每种罕见癌症风险升高相关的临床、人口统计、环境、生活方式和家族史特征 打字。人们感兴趣的问题包括，罕见的癌症患者是否与没有患上这些癌症的人相比，有更高的暴露比率，如吸烟或不同的家族癌症病史。3.使用CGN注册者的长期(10年)随访数据，确定罕见癌症幸存者的长期结果。感兴趣的问题包括共病(如心脏病)和第二原发癌的风险是什么，以及患有罕见癌症的患者与未受影响的对照组之间这些风险的比较如何？心理症状(记忆力丧失、疲劳、抑郁)的风险是什么？这些比未受影响的(对照)更常见吗？而不是普通癌症患者？人口统计学、临床、生活方式和治疗对罕见癌症患者的生理和心理长期并发症有何预测作用？如果可能，分析将在每个罕见的癌症部位单独进行。并将使用所有数据进行汇总分析，考虑到年龄、诊断、登记和地点。 与公共卫生相关：罕见的癌症占我国癌症诊断的27%，占癌症死亡率的25%。由于这些疾病的发病率很低，它们往往得不到很好的研究或有效的治疗。对这些孤儿癌症的研究可以为这些疾病的病因和长期结果提供更深入的见解。

DESCRIPTION (provided by applicant): Taken as an aggregate, rare cancers (those affecting fewer than 200,000 people in the US according to the Orphan Disease Act definition) account for 27% of the US cancer diagnoses and 25% of cancer mortality. However, while new therapies have changed the way some common cancers are treated, there has been little advance in the treatment of most rare cancers and research directed at these diseases is sparse. The main goal of this application is to launch a research program aimed at deepening the understanding of the etiology and long-term outcomes of patients diagnosed with rare cancers. For our analyses, we will utilize data collected by the Cancer Genetics Network (CGN) and the Rare Cancer Genetics Registry (RCGR). The CGN, developed in 1998, has over 15,000 participants with cancer (of whom 873 had a rare cancer) in addition to over 5,000 of their unaffected family members. The RCGR, funded by an NIH Challenge grant in 2009, has over 400 participants with rare cancers recruited by a subset of the CGN sites. Dr. Finkelstein is the PI of the both the CGN and the RCGR. Neither the CGN nor the RCGR provided funding to support analysis of the data collected for the registries. This application plans to undertake analyses of the characteristics associated with elevated risk of rare cancers, as well as long-term outcomes of these diseases. Specific Aims include: 1. Create a single research data set from data collected in the CGN and RCGR consisting of subjects with rare cancers, those with more common cancers, and unaffected family members of participants. Available data include demographics, lifestyle and environmental exposures, medical and family history, genetic test results, cancer diagnoses, co-morbidities, treatment and survival status. On CGN participants, we have over 10 years follow-up of clinical, psychological and physical outcomes of disease and treatment. 2. Using the combined CGN and RCGR data, determine the clinical, demographic, environmental, life-style, and family history characteristics associated with an elevated risk of each rare cancer type. Questions of interest include whether rare cancer patients have a higher rate of exposures such as smoking or a different profile of family cancer history than people who do not get these cancers. 3. Using long-term (10 year) follow-up data from CGN registrants, determine the long-term outcomes in rare cancer survivors. Questions of interest include what are the risks of co-morbidities (such as heart disease) and second primary cancers, and how do these risks compare between patients with the rare cancer versus unaffected controls? What are the risks of psychological symptoms (memory loss, fatigue, depression) and are these more common than unaffected (controls)? Than in patients with common cancers? What are the demographic, clinical, lifestyle and treatment predictors of physical and psychological long-term complications in patients with rare cancers? Analyses will be done separately within each rare cancer site when possible. and an aggregated analysis using all data, accounting for age, diagnosis, registry and site will be done. PUBLIC HEALTH RELEVANCE: Rare cancers represent 27% of our nation's cancer diagnoses and 25% of our cancer mortalities. Because of the low incidence of these diseases, they are often not well-studied or effectively treated. Research into these orphan cancers could offer deeper insight into the etiology as well as long-term outcomes of these diseases.