Rare Cancer Genetics Registry

罕见癌症遗传学登记处

• 批准号: 8292446
• 负责人: DIANNE M FINKELSTEIN
• 金额: $ 49.61万
• 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 2017-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8292446
• 关键词: Accounting; Adenoid Cystic Carcinoma; Affect; Cancer Patient; Chordoma; Classification; Clinical; Clinical Trials; Communities; Consent; DNA; Data; Development; Diagnosis; Disease; Family history of; Foundations; Funding; Future; General Hospitals; Genes; Genetic; 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; Orphan Disease; Outcome; Participant; Pathway interactions; Patients; Population; Population Genetics; Prevention; Psychosocial Assessment and Care; Randomized Clinical Trials; 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 research site; cohort; follow-up; genetic profiling; genetic registry; mortality; novel; programs; research and development; research study; response; therapeutic effectiveness; treatment response; tumor

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. PUBLIC HEALTH RELEVANCE: Rare cancers account for a significant morbidity and mortality in the United States. This proposal aims to gain a better understanding of the factors associated with the risks and outcomes of people with these cancers in order to facilitate development of better methods of prevention and treatment.

描述（由申请人提供）：从总体来看，罕见癌症（根据《孤儿病法案》的定义，在美国影响不到 200,000 人的癌症）占美国癌症诊断的 27% 和癌症死亡率的 25%。然而，虽然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几乎没有取得进展，而且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，该项目由 2009 年 NIH 挑战拨款资助，旨在“促进对这些疾病的原因和治疗的研究”。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、五个学术临床招募站点和一个学术医学信息学站点组成。该提案计划将登记范围扩大到 600 名非常罕见（美国发病率低于 5,000 例/年）和未充分研究的癌症的参与者。在资助的 5 年内，将在 5 个学术临床中心和现有基金会的注册处招募注册者。脊索瘤、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，根据初步结果和五年项目期间招募的可行性而选择。将获得肿瘤组织和 DNA，以及有关诊断、治疗、反应和复发的图表摘要数据。注册者将被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，为治疗干预措施的选择提供信息；2) 了解罕见癌症患者的反应结果、复发和晚期影响的临床、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，该技术可检测许多常见癌症中出现的一系列突变，并且针对这些突变已有或正在开发潜在的靶向治疗。结果分析将需要复杂的统计方法，通过适当分析登记中的患者总数来处理每个单独诊断中的少量患者。该拟议项目可以为更广泛的研究界提供资源，并将在未来许多年为癌症研究服务。 公共卫生相关性：罕见癌症在美国发病率和死亡率很高。该提案旨在更好地了解与这些癌症患者的风险和结果相关的因素，以促进开发更好的预防和治疗方法。