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）：总体而言，罕见癌症（根据孤儿疾病法案定义，在美国影响不到20万人的癌症）占美国癌症诊断的27%和癌症死亡率的25%。然而，尽管新疗法改变了一些常见癌症的治疗方式，但大多数罕见癌症的治疗进展甚微，针对这些疾病的研究也很少。该提案的主要目标是扩大基础设施，并启动罕见癌症遗传学登记处（RCGR）的研究计划，该项目于2009年由NIH挑战基金资助，旨在“促进对这些疾病的病因和治疗的研究”。目前，RCGR是一个拥有500多名参与者的注册中心，由马萨诸塞州总医院的一个协调中心、五个学术临床招募网站和一个学术医学信息网站组成。该提案计划将登记研究扩大到600名非常罕见（在美国发病率低于5,000/年）和研究不足的癌症受试者。注册者将在5个学术临床研究中心和现有基金会的注册处招募，为期5年。脉络膜炎、葡萄膜黑色素瘤、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，选择这些诊断是因为初步结果和5年项目期间招募的可行性。将获得肿瘤组织和DNA，沿着关于诊断、治疗、缓解和复发的图表摘要数据。登记者将同意重新联系以参与未来的研究。将启动一项新的研究计划，旨在1）表征罕见肿瘤的遗传特征，可以为治疗干预措施的选择提供信息，2）了解罕见癌症患者的缓解和复发结局以及晚期效应的临床，病理和治疗预测因素。肿瘤基因分型将使用最先进的机器人技术进行，该技术检测许多常见癌症中出现的一组突变，并且潜在的靶向治疗可用或正在开发中。结局分析将需要复杂的统计方法，通过适当分析登记研究中的患者总数，可以处理每个单独诊断中的少量患者。这个拟议的项目可以提供资源，将提供给更广泛的研究界，并将服务于癌症研究多年来。