Development of a Registry for Familial Pancreatic Cancer

描述（由申请人提供）： 胰腺腺癌是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%的病例聚集在 家族通常具有常染色体显性遗传的模式 外显率不同的传播。有一些罕见的综合征， 其遗传病因已被确定。然而，病因并没有 在大多数家族性病例中被定义。识别高风险 家庭和成员的登记是基因资源的基础 发现和未来的研究，以完善环境识别 这些因素，制定预防战略和测试干预措施。的目的 一项建议是建立一个高危人口登记册， 今后的研究和具体目标是： 1)描述具有胰腺癌聚集性的家族特征 在犹他州人口数据库（UTB）中，2）创建这些人的登记处 家庭，3）获取用于DNA提取的血液和组织块，4）建立 必要的系统，以便本登记册中的人能够 参与未来的研究，包括基因发现，鉴定和 环境和生活方式危险因素的验证，化学预防 试验和干预性研究，可能包括医疗 （靶向基因治疗、肿瘤疫苗）、手术和内窥镜方式。 调查人员打算参加一个国际财团， 目前正在开发的登记册，以增加此类登记册的统计能力， 研究如上所述。 已建立和验证的遗传流行病学技术， 机构将被用来描述家庭。先证者或下一个 死者的亲属，从提供信息的家庭将被联系， 邀请使用经过验证的方法参与，以确保机密性。 对于同意的家庭，将确定一名家庭倡导者， 亲戚，并协助完善血统。将获得同意， 收集先证者的医疗记录和胰腺癌组织块。 系谱将扩大和登记。将通知受试者 未来的登记研究包括问卷填写、血液检测 DNA和临床试验有待开发。该提案将允许 调查人员提供访问一个独特的和重要的资源， 国家层面。该目标与国家癌症研究所一致 倡议“确定，表征和了解导致或 在家族性癌症中发挥作用。"

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."