Rare Cancer Genetics Registry

罕见癌症遗传学登记处

• 批准号: 8915642
• 负责人: DIANNE M FINKELSTEIN
• 金额: $ 49.72万
• 依托单位: MASSACHUSETTS GENERAL HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-09-05 至 2016-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8915642
• 关键词: Accounting; Adenoid Cystic Carcinoma; Affect; Cancer Patient; Chordoma; Classification; Clinical; Clinical Trials; Communities; Consent; Data; Development; Diagnosis; Disease; Family history of; Foundations; Funding; Future; General Hospitals; Genes; Genetic study; Genotype; Goals; Grant; Growth; Incidence; Individual; Laboratories; Late Effects; Malignant Neoplasms; Malignant neoplasm of vulva; Massachusetts; Medical Informatics; Medical Records; Merkel cell carcinoma; Methodology; Methods; Monitor; Morbidity - disease rate; Mutation; Outcome; Participant; Pathway interactions; Patients; Population; Population Genetics; Prevention; Psychosocial Assessment and Care; Randomized Clinical Trials; Rare Diseases; Recruitment Activity; Recurrence; Registries; Relative (related person); Research; Research Infrastructure; Resources; Risk; Robotics; Sampling; Site; Statistical Methods; Technology; Therapeutic; Therapeutic Intervention; Translational Research; Treatment outcome; Tumor Tissue; United States; United States National Institutes of Health; Uveal Melanoma; abstracting; anticancer research; cancer diagnosis; cancer genetics; clinical predictors; clinical research site; cohort; follow-up; genetic profiling; genetic registry; mortality; novel; programs; research and development; research study; response; targeted treatment; therapeutic effectiveness; treatment response; tumor; tumor DNA

DESCRIPTION (provided by applicant): Taken as an aggregate, rare cancers (those affecting fewer than 200,000 people in the US according to the Orphan Disease Act definition) account for 27% of the US cancer diagnoses and 25% of cancer mortality. However, while new therapies have changed the way some common cancers are treated, there has been little advance in the treatment of most rare cancers and research directed at these diseases is sparse. The main goal of this proposal is to expand the infrastructure and launch a research program for the Rare Cancer Genetics Registry (RCGR), a project that was funded by an NIH Challenge grant in 2009 to "promote research into the causes and treatment of these diseases". Currently, the RCGR is a registry with over 500 participants and consists of a coordinating center at Massachusetts General Hospital, five academic clinical recruiting sites, and an academic medical informatics site. This proposal plans to expand the registry by 600 participants with very rare (incidence below 5,000/year in the US) and understudied cancers. Registrants will be recruited at 5 academic clinical sites and from registries of existing foundations during the 5 years of the grant. Diagnoses of chordoma, uveal melanoma, Merkel cell carcinoma, vulvar cancer, and adenoid cystic carcinoma will be the focus of recruitment, chosen due to preliminary results and feasibility of recruitment during the 5-year project period. Tumor tissue and DNA will be obtained, along with chart-abstracted data on diagnosis, treatment, response and recurrence. Registrants will be consented for re-contact to participate in future studies. A new research program will be launched, aimed at 1) characterizing the genetic profile of rare tumors that could inform the choice of therapeutic interventions, and 2) understanding the clinical, pathological, and therapeutic predictors of outcomes of response and recurrence and late effects in rare cancer patients. The tumor genotyping will be carried out using a state-of-the-art robotic technology that detects a set of mutations that arise in many common cancers, and for which potential targeted therapies are available or in development. The outcomes analysis will require sophisticated statistical methods that can deal with the small numbers of patients within each individual diagnosis by appropriately analyzing the aggregate of patients in the registry. This proposed project could provide resources that will be available to the wider research community and will serve cancer research for many years to come.

描述（由申请人提供）：作为一种总罕见的癌症（根据《孤儿疾病法》的定义，美国癌症少于200,000人的癌症）占美国癌症诊断的27％，占癌症死亡率的25％。但是，尽管新疗法改变了一些常见的癌症的治疗方式，但在治疗最罕见的癌症方面几乎没有进步，而针对这些疾病的研究很少。该提案的主要目的是扩大基础设施，并为稀有癌症遗传学注册中心（RCGR）启动研究计划，该项目由2009年的NIH挑战拨款资助，以“促进研究和治疗这些疾病的研究和治疗”。目前，RCGR是一个注册表，有500多名参与者，由马萨诸塞州综合医院的一个协调中心，五个学术临床招聘站点和一个学术医学信息学网站组成。该提案计划将注册表扩展到600名参与者，罕见的参与者（美国的发病率低于5,000），并研究了癌症。在赠款的5年期间，将在5个学术临床站点和现有基金会的注册处招募注册人。诊断脊髓瘤，紫veal黑色素瘤，默克尔细胞癌，外阴癌和腺样囊性癌的诊断将是招募的重点，这是由于在5年项目期间的初步结果和招募的可行性而选择的。将获得肿瘤组织和DNA，以及有关诊断，治疗，反应和复发的图表的数据。注册人将同意重新接触参加以后的研究。将启动一项新的研究计划，目的是1）表征稀有肿瘤的遗传特征，这些症状可以为治疗性干预的选择提供信息，2）了解稀有癌症患者的临床，病理和治疗性预测因素的临床，病理和治疗性预测指标。肿瘤基因分型将使用最先进的机器人技术进行，该机器人技术检测许多在许多常见癌症中出现的突变，并且可以为此提供潜在的靶向疗法或发育。结果分析将需要复杂的统计方法，这些方法可以通过适当分析注册表中患者的骨料来处理每个个体诊断中的少量患者。这个拟议的项目可以提供将为更广泛的研究社区提供的资源，并将在未来许多年内为癌症研究提供服务。