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.

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子弹和调查员（PI）可能已经从其他NIH来源获得了主要资金，因此可以在其他清晰的条目中代表。列出的机构适用于该中心，这不一定是调查员的机构。目的：确定家族性黑色素瘤和细胞周期蛋白依赖性激酶抑制剂2A（CDKN2A）突变的高危患者胰腺癌监测的最佳方法。设计：带有血统分析和文献综述的病例报告，重点是针对与家族性胰腺腺癌的高风险亲戚的指南开发。环境：一家与大学相关的家族性黑色素瘤研究诊所。患者：该概率被称为研究诊所方案的参与者，并被发现携带种系CDKN2A突变，并具有黑色素瘤和胰腺腺癌的病史。通过犹他州人口数据库总共确定了179名家庭成员，并对黑色素瘤和胰腺腺癌的史进行了评估。 干预：方法 - 通过个人访谈，病历审查以及癌症注册表和人口数据库记录的使用，全面的家族史和谱系分析。通过DNA序列分析的结果证实了突变状态。用免疫组织化学标记证实了肿瘤的身份。 主要结果指标：患有CDKN2A阳性黑色素瘤的高风险家族中胰腺腺癌的估计风险。这些家庭监视指南是基于对文献的审查。