Development of a Registry for Familial Pancreatic Cancer

描述(由申请人提供)： 胰腺癌是导致癌症死亡的第四大常见原因 在美国。它每年影响大约28,600名美国人， 死亡率等于发病率。5%到10%的病例在 家系一般为常染色体显性遗传 变速箱具有可变的透过率。有几个罕见的综合征， 这是一种已经确定的遗传病因学。然而，病因学并没有 被定义为大多数家族性病例。高风险的识别 家族和成员的注册是基因资源的基础 改进环境识别的发现和未来研究 因素，制定预防策略和测试干预措施。这样做的目的是 建议是制定高危人口登记制度，为 未来的研究和具体目标是： 1)确定具有胰腺癌聚集性的家系特征 在犹他州人口数据库(UPDB)中，2)创建以下内容的注册表 家庭，3)获取血液和组织块用于DNA提取，4)建立 必要的系统，以便本登记处的人员可以 参与未来的研究，包括基因发现、鉴定和 验证环境和生活方式风险因素、化学预防 试验和干预性研究，可能包括医学 (靶向基因治疗、肿瘤疫苗)、外科手术和内窥镜检查。 调查人员打算参加一个国际财团， 目前正在开发中的登记册，以增加此类登记册的统计能力 如上所列的研究。 在此开发的已建立和验证的遗传流行病学技术 制度将被用来描述这些家庭的特征。先行者，或下一代 死者的亲属，来自消息灵通的家庭的人将被联系并 应邀参加，使用有效的方法确保机密性。 对于同意的家庭，将指定一名家庭倡导者来招募 并协助完善血统。将获得同意，以 从先证者那里收集病历和胰腺癌组织块。 家谱将被扩大和登记。受试者将被告知 未来的登记研究将包括问卷填写、血液测试和 DNA，以及有待开发的临床试验。这项提议将允许 调查人员将提供访问一个唯一和重要的本地和 国家级的。这个目标与国家癌症研究所的目标一致 主动“识别、表征和理解导致或 在家族性癌症中起到一定的作用。

DESCRIPTION (provided by applicant): Adenocarcinoma of the pancreas is the fourth most common cause of cancer death in the United States. It affects about 28,600 Americans each year and the mortality rate equals the incidence. Five to 10 percent of cases aggregate in families generally in a pattern consistent with autosomal dominant transmission with variable penetrance. There are a few rare syndromes for which a genetic etiology has been identified. However, the etiology has not been defined for the majority of familial cases. Identification of high-risk families and registration of the members is fundamental as a resource for gene discovery and future studies to refine identification of environmental factors, develop prevention strategies and test interventions. The aim of this proposal is to develop a high-risk population registry to provide a basis for future research and the specific objectives are: 1) Characterize the families with clustering of pancreatic cancer identified in the Utah Population Database (UPDB), 2) Create a registry of these families, 3) Procure blood and tissue blocks for DNA extraction, 4) Establish systems necessary so that the persons in this registry are available to participate in future studies to include gene discovery, identification and validation of environmental and lifestyle risk factors, chemoprevention trials, and interventional studies that potentially could include medical (targeted gene therapy, tumor vaccines), surgical and endoscopic modalities. The investigators intend to participate in an international consortium of registries currently in development to increase the statistical power for such studies as listed above. Established and validated genetic epidemiological techniques developed at this institution will be used to characterize the families. Probands, or next of kin for deceased persons, from informative families will be contacted and invited to participate using a validated method that assures confidentiality. For consenting families, a family advocate will be identified to recruit relatives and assist in refining the pedigree. Consent will be obtained to collect medical records and pancreatic cancer tissue blocks from the proband. The pedigrees will be expanded and registered. Subjects will be notified of future registry studies to include questionnaire completion, blood testing for DNA, and clinical trials to be developed. This proposal will allow the investigators to provide access a unique and important resource on a local and a national level. The goal corresponds with the National Cancer Institute Initiative to "identify, characterize, and understand the genes that cause or play a role in familial cancer."