Core 3: Family and Population Registries Core

项目摘要： 结肠直肠癌和胰腺癌的发生涉及环境和遗传因素的相互作用 可使.诊断和治疗这些恶性肿瘤的关键是了解这些 通过调查充分表征和可用的患者数据和标本来确定这些因素。 Core 3的目标是为SPORE和其他调查人员提供这些材料，以支持以下研究： 家族、环境和分子遗传因素在结直肠癌和胰腺癌中的作用。与此 关于这一点，对遗传性结直肠癌和息肉病综合征患者进行了登记和临床研究， 1973年在约翰霍普金斯医院成立。1982年，肠道肿瘤工作组成立， 结直肠肿瘤的病理生物学和分子遗传学。1991年，核心3成立。电子 该核心的记录保存在计算机化的后代和REDCap数据库中，包括：1） 有结直肠癌、早发性结直肠癌和息肉病家族聚集史的家族 综合征和2）家族史和食物频率问卷调查的患者评价结直肠癌 肿瘤3）有胰腺癌病史的家族4）胰腺囊性肿瘤患者， 5)控制个人。在其历史上，核心以多种方式扩张。1996年，核心文件得到更新。 包括具有胰腺癌个人或家族史的个体。在目前的提案中，我们将 扩展核心以包括胰腺囊性肿瘤个体和对照个体。 我们的家庭和人口核心的具体目标是： 1.收集家族史、医疗史、病理记录、环境/暴露和饮食数据 来自患有结直肠和胰腺肿瘤及相关综合征的风险和受影响个体。 2.采集高危和受影响个体的血液、粪便、唾液和囊液样本， 结直肠和胰腺肿瘤及相关综合征。 相关性： 通过该核心积累的数据所获得的知识的重要性是重要的和多因素的。 这些知识的益处包括启动预防性监测所需的风险标记 策略，诊断标志物对这些肿瘤的适当药物和手术治疗至关重要， 药物治疗发展所需的治疗靶点。

Project Summary: The genesis of colorectal and pancreatic cancer involves the interaction of environmental and heritable causes. Key to discoveries in diagnosis and treatment of these malignancies is the understanding of these factors by investigation of well-characterized and available patient data and specimens. The goal of Core 3 is to provide SPORE and other investigators with these materials to support the research of familial, environmental and molecular genetic factors in both colorectal and pancreatic cancer. With this regard, a registry and clinical study of patients with hereditary colorectal cancer and polyposis syndromes were founded at the Johns Hopkins Hospital in 1973. In 1982, the Bowel Tumor Working Group was formed to study the pathobiology and molecular genetics of colorectal tumors. In 1991, the Core 3 was formed. The electronic records for this Core are maintained in computerized Progeny and REDCap data bases and includes: 1) families with a history of familial aggregation of colorectal cancer, early onset colorectal cancer and polyposis syndromes and 2) family histories and food frequency questionnaires on patients evaluated for colorectal neoplasm 3) families with a history of pancreatic cancer 4) patients with cystic neoplasms of the pancreas and 5) control individuals. Over its history the Core has expanded in several ways. In 1996 the Core was updated to include individuals with a personal or family history of pancreatic cancer. In this current proposal, we will expand the Core to include individuals with cystic neoplasms of the pancreas and control individuals. The specific aims of our Family and Population Core are: 1. To collect family history, medical history, pathological records, environmental/exposure and dietary data from at risk and affected individuals with colorectal and pancreatic neoplasms and associated syndromes. 2. To procure specimens including blood, stool, saliva and cyst fluid in at-risk and affected individuals with colorectal and pancreatic neoplasms and associated syndromes. Relevance: The importance of the knowledge gained by the data accumulated by this Core is significant and multifactorial. Benefits from this knowledge include risk markers necessary for the initiation of preventative surveillance strategies, diagnostic markers essential to the appropriate medical and surgical treatment of these tumors, and therapeutic targets needed for the development of medical therapies.