Development of a Registry for Familial Pancreatic Cancer

家族性胰腺癌登记系统的开发

• 批准号: 6492889
• 负责人: James A. DiSario
• 金额: $ 7.5万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-06-01 至 2004-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6492889
• 关键词: cancer information system; cancer registry /resource; clinical research; data collection; disease /disorder proneness /risk; family genetics; genetic registry /resource /referral center; genetic screening; genetic susceptibility; human population genetics; human subject; molecular biology information system; neoplasm /cancer genetics; pancreas neoplasms; questionnaires

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."

描述（由申请人提供）： 胰腺腺癌是癌症死亡的第四大原因 在美国。它每年影响约28,600名美国人 死亡率等于发病率。 5％至10％的案件汇总 通常以与常染色体显性一致的模式的家庭 带有可变的渗透率传输。有一些罕见的综合症 遗传病因已被鉴定出来。但是，病因还没有 已定义为大多数家族案例。高风险的识别 家庭和成员的注册是基因的基本资源 发现和未来的研究以完善环境的识别 因素，制定预防策略和测试干预措施。这个目的 建议是开发高风险人口注册表，以提供 未来的研究和具体目标是： 1）表征鉴定出胰腺癌聚类的家庭 在犹他州人口数据库（UPDB），2）创建其中的注册表 家庭，3）采购血液和组织块以进行DNA提取，4）建立 必要的系统，以便可以使用此注册表中的人员 参加以后的研究，包括基因发现，识别和 验证环境和生活方式风险因素，化学预防 试验和可能包括医学的介入研究 （靶向基因疗法，肿瘤疫苗），外科和内窥镜形态。 调查人员打算参加一个国际财团 目前正在开发的注册机构，以增加此类的统计能力 如上所述的研究。 在此开发的已建立和验证的遗传流行病学技术 机构将用于表征家庭。概率或下一个 与死者的亲属，将联系信息丰富的家庭，并将与 邀请使用确保机密性的经过验证的方法参加。 对于同意家庭，将确定家庭倡导者以招募 亲戚并协助完善血统。将获得同意 收集医疗记录和胰腺癌组织的块。 血统会扩展和注册。受试者将通知 未来的注册表研究，包括完成问卷调查，血液测试 DNA和要开发的临床试验。该建议将允许 调查人员在本地和 国家一级。目标与国家癌症研究所相对应 主动“识别，表征和理解引起或 在家族癌中发挥作用。”