Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland.
Cancer Epidemiol Biomarkers Prev. 2021 Jul;30(7):1305-1311. doi: 10.1158/1055-9965.EPI-20-1796. Epub 2021 Apr 1.
The goals of this project were to assess the status of NCI's rare cancer-focused population science research managed by the Division of Cancer Control and Population Sciences (DCCPS), to develop a framework for evaluation of rare cancer research activities, and to review available resources to study rare cancers.
Cancer types with an overall age-adjusted incidence rate of less than 20 cases per 100,000 individuals were identified using NCI Surveillance, Epidemiology and End Results (SEER) Program data. SEER data were utilized to develop a framework based on statistical commonalities. A portfolio analysis of DCCPS-supported active grants and a review of three genomic databases were conducted.
For the 45 rare cancer types included in the analysis, 123 active DCCPS-supported rare cancer-focused grants were identified, of which the highest percentage (18.7%) focused on ovarian cancer. The developed framework revealed five clusters of rare cancer types. The cluster with the highest number of grants ( = 43) and grants per cancer type (10.8) was the cluster that included cancer types of higher incidence, average to better survival, and high prevalence (in comparison with other rare cancers). Resource review revealed rare cancers are represented in available genomic resources, but to a lesser extent compared with more common cancers.
This article provides an overview of the rare cancer-focused population sciences research landscape as well as information on gaps and opportunities.
The findings of this article can be used to develop efficient and comprehensive strategies to accelerate rare cancer research..
本项目的目标是评估美国国家癌症研究所（NCI）由癌症控制与人口科学部（DCCPS）管理的罕见癌症人群科学研究的现状，制定评估罕见癌症研究活动的框架，并审查研究罕见癌症的可用资源。
使用 NCI 监测、流行病学和最终结果（SEER）计划数据，确定总体年龄调整发病率低于每 10 万人 20 例的癌症类型。利用 SEER 数据制定了一个基于统计共性的框架。对 DCCPS 支持的活跃赠款进行投资组合分析，并对三个基因组数据库进行了审查。
对于分析中包含的 45 种罕见癌症类型，确定了 123 项 DCCPS 支持的活跃罕见癌症重点资助项目，其中最高比例（18.7%）集中在卵巢癌上。制定的框架揭示了五个罕见癌症类型集群。拥有最多拨款（=43）和每癌症类型拨款（10.8）的集群是包括发病率较高、平均至更好生存和高患病率（与其他罕见癌症相比）的癌症类型的集群。资源审查显示，现有基因组资源中存在罕见癌症，但与更常见的癌症相比，数量较少。
本文概述了罕见癌症人群科学研究的现状，以及差距和机遇方面的信息。
本文的研究结果可用于制定有效和全面的策略，以加速罕见癌症研究。
