DEVELOPMENT OF A REGISTRY FOR FAMILIAL PANCREATIC CANCER

家族性胰腺癌登记册的开发

• 批准号: 7376465
• 负责人: James A. DiSario
• 金额: $ 1.43万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-04-01 至 2007-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7376465
• 关键词: adenocarcinoma; family; family genetics; gene mutation; information systems; literature survey; melanoma; pancreas neoplasms

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. OBJECTIVE: To determine the optimal methods for pancreatic adenocarcinoma surveillance in high-risk patients with familial melanoma and cyclin-dependent kinase inhibitor 2A (CDKN2A) mutations. DESIGN: Case report with pedigree analysis and literature review, with an emphasis on guideline development for high-risk kindreds with familial pancreatic adenocarcinoma. SETTING: A university-affiliated familial melanoma research clinic. PATIENTS: The proband was referred as a participant in a research clinic protocol and was found to carry a germline CDKN2A mutation and have a history of melanoma and pancreatic adenocarcinoma. A total of 179 family members were identified through the Utah Population Database and underwent evaluation for history of melanoma and pancreatic adenocarcinoma. INTERVENTION: METHODS - Comprehensive family history and pedigree analysis performed by means of personal interview, medical record review, and use of cancer registry and population database records. Mutation status was confirmed by results of DNA sequence analysis. Tumor identity was confirmed with immunohistochemical markers. MAIN OUTCOME MEASURES: Estimated risk for pancreatic adenocarcinoma in a high-risk family with CDKN2A-positive melanoma. Guidelines for surveillance in these families were based on review of the literature.

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。目的：探讨家族性黑色素瘤高危患者胰腺癌监测及细胞周期蛋白依赖性激酶抑制因子2A(CDKN2A)突变的最佳方法。设计：病例报告，家系分析和文献复习，重点是家族性胰腺癌高危家系的指南制定。单位：一所大学附属的家族性黑色素瘤研究诊所。患者：先证者被推荐为研究临床方案的参与者，并被发现携带生殖系CDKN2A突变，并有黑色素瘤和胰腺癌病史。共有179名家庭成员通过犹他州人口数据库进行了鉴定，并接受了黑色素瘤和胰腺癌病史的评估。干预：方法-通过个人访谈、病历回顾、使用癌症登记和人口数据库记录进行全面的家族史和家系分析。DNA序列分析结果证实了突变状态。用免疫组织化学标记物确认肿瘤的身份。主要观察指标：评估CDKN2A阳性黑色素瘤高危家族患胰腺癌的风险。这些家庭的监测指南是基于对文献的回顾。