DEVELOPMENT OF A REGISTRY FOR FAMILIAL PANCREATIC CANCER

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。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）突变高危患者胰腺腺癌监测的最佳方法。设计：病例报告，家谱分析和文献回顾，重点是家族性胰腺腺癌高危人群的指南制定。地点：一所大学附属的家族性黑色素瘤研究诊所。患者：先证者作为临床研究方案的参与者，被发现携带种系CDKN2A突变，并有黑色素瘤和胰腺腺癌的病史。通过犹他州人口数据库共确定了179名家庭成员，并对其进行了黑色素瘤和胰腺腺癌病史评估。干预：方法-通过个人访谈、医疗记录回顾和使用癌症登记和人口数据库记录进行全面的家族史和系谱分析。DNA序列分析结果证实突变状态。用免疫组织化学标记物确认肿瘤身份。主要结局指标：估计患有cdkn2a阳性黑色素瘤的高危家庭发生胰腺腺癌的风险。这些家庭的监测指南是基于对文献的回顾。

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.